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  1. Gitelman syndrome (GS) is an autosomal recessive tubulopathy caused by mutations of the SLC12A3 gene. It is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. It is universally...

    Authors: Zhiying Liu, Sai Wang, Ruixiao Zhang, Cui Wang, Jingru Lu and Leping Shao

    Citation: BMC Medical Genomics 2021 14:198

    Content type: Case report

    Published on:

  2. GLUT1 Deficiency Syndrome 1 (GLUT1DS1) is a neurological disorder caused by either heterozygous or homozygous mutations in the Solute Carrier Family 2, Member 1 (SLC2A1) gene. SLC2A1 encodes Glucose transporter t...

    Authors: Tugce Bozkurt, Yasemin Alanay, Ugur Isik and Ugur Sezerman

    Citation: BMC Medical Genomics 2021 14:197

    Content type: Case report

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  3. Inherited hypertrophic cardiomyopathy (HCM) is a common heart muscle disease that damages heart function and may cause the heart to suddenly stop beating. Genetic factors play an important role in HCM. Pedigre...

    Authors: Yan Zhang, Yiyi Shang, Luo Liu, Xiaoxue Ding, Haiyan Wu, Lijiang Li and Mingjie Pang

    Citation: BMC Medical Genomics 2021 14:196

    Content type: Research

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  4. The non-invasive prenatal test (NIPT) is based on next generation sequencing (NGS) and is used for screening for fetal trisomy. However, it is time-consuming and technically difficult. Recently, peptide nuclei...

    Authors: So Yeon Kim, Seung Mi Lee, Sun Min Kim, Byoung Jae Kim, Ja Nam Koo, Ig Hwan Oh, Sohee Oh, Chan-Wook Park, Jong Kwan Jun, Ji Hyae Lim, Hyun Mee Ryu and Joong Shin Park

    Citation: BMC Medical Genomics 2021 14:195

    Content type: Research

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  5. Crohn’s disease (CD) is a heritable chronic inflammatory disorder. Non-coding RNAs (ncRNAs) play an important role in epigenetic regulation by affecting gene expression, but can also directly affect protein fu...

    Authors: Ranjit Pelia, Suresh Venkateswaran, Jason D. Matthews, Yael Haberman, David J. Cutler, Jeffrey S. Hyams, Lee A. Denson and Subra Kugathasan

    Citation: BMC Medical Genomics 2021 14:194

    Content type: Research article

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  6. Age-related hearing impairment (ARHI) has attracted increasing attention recently. It is caused by genetic and environmental factors. A number of ARHI-related genes have been found. This study aimed to detect ...

    Authors: Wanxue Song, Hainan Cao, Dongfeng Zhang, Haiyan Xu, Qianqian Zhang, Zhaoguo Wang, Suyun Li, Weijing Wang, Wenchao Hu, Bingling Wang and Haiping Duan

    Citation: BMC Medical Genomics 2021 14:193

    Content type: Research

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  8. Adenylate kinase (AK) deficiency is a rare red cell enzymopathy associated with moderate to severe congenital nonspherocytic hemolytic anemia, along with mental and psychomotor retardation (in exceptional case...

    Authors: Rashmi Dongerdiye, Abhilasha Sampagar, Rati Devendra, Prashant Warang and Prabhakar Kedar

    Citation: BMC Medical Genomics 2021 14:191

    Content type: Research article

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  9. Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by uniform shortening of the middle phalanges in all digits. It is associated with variants in the Indian Hedgehog (IHH) gene, which pl...

    Authors: Nozomu Ozaki, Hiroko Okuda, Hatasu Kobayashi, Kouji H. Harada, Sumiko Inoue, Shohab Youssefian and Akio Koizumi

    Citation: BMC Medical Genomics 2021 14:190

    Content type: Research article

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  10. SMARCAs, belonged to SWI/SNF2 subfamilies, are critical to cellular processes due to their modulation of chromatin remodeling processes. Although SMARCAs are implicated in the tumor progression of various canc...

    Authors: Feng-Jiao Wang, Yan-Hua Jing, Chien-Shan Cheng, Zhang-Qi Cao, Ju-Ying Jiao and Zhen Chen

    Citation: BMC Medical Genomics 2021 14:189

    Content type: Research

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  11. India accounts for 20% of the global retinoblastoma (RB) burden. However, the existing data on RB1 gene germline mutations and its influence on clinical decisions is minimally explored.

    Authors: Himika Gupta, Sivasankar Malaichamy, Ashwin Mallipatna, Sakthivel Murugan, Nallathambi Jeyabalan, Vishnu Suresh Babu, Anuprita Ghosh, Arkasubhra Ghosh, Sam Santhosh, Somasekar Seshagiri, Vedam L. Ramprasad and Govindasamy Kumaramanickavel

    Citation: BMC Medical Genomics 2021 14:188

    Content type: Research

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  12. Basal cell carcinoma (BCC) represents by far the most common non-melanoma skin cancer (NMSC) in the world with an increasing incidence of 3% to 10% per year, especially in patients under the age of 40. While v...

    Authors: Marc Abi Karam, Hampig Raphael Kourie, Nadine Jalkh, Cybel Mehawej, Carole Kesrouani, Fady Gh Haddad, Iman Feghaly, Eliane Chouery and Roland Tomb

    Citation: BMC Medical Genomics 2021 14:187

    Content type: Research article

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  13. Pathogenic variants in connector enhancer of kinase suppressor of Ras-2 (CNKSR2) located on the X chromosome (Xp22.12) lead to a disorder characterized by developmental delay and a characteristic seizure phenotyp...

    Authors: Leigh Ann Higa, Jennifer Wardley, Christopher Wardley, Susan Singh, Timothy Foster and Joseph J. Shen

    Citation: BMC Medical Genomics 2021 14:186

    Content type: Case report

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  14. Benign breast disease (BBD) is a risk factor for breast cancer (BC); however, little is known about the genetic alterations present at the time of BBD diagnosis and how these relate to risk of incident BC.

    Authors: Stacey J. Winham, Chen Wang, Ethan P. Heinzen, Aditya Bhagwate, Yuanhang Liu, Samantha J. McDonough, Melody L. Stallings-Mann, Marlene H. Frost, Robert A. Vierkant, Lori A. Denison, Jodi M. Carter, Mark E. Sherman, Derek C. Radisky, Amy C. Degnim and Julie M. Cunningham

    Citation: BMC Medical Genomics 2021 14:185

    Content type: Research article

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  16. To study the accumulation of MS-risk resulting from different combinations of MS-associated conserved-extended-haplotypes (CEHs) of the MHC and three non-MHC “risk-haplotypes” nearby genes EOMES, ZFP36L1, and CLE...

    Authors: D. S. Goodin, P. Khankhanian, P. A. Gourraud and N. Vince

    Citation: BMC Medical Genomics 2021 14:183

    Content type: Research article

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  17. SYN1 encodes synapsin I, which is a neuronal phosphoprotein involving in regulating axonogenesis and synaptogenesis. Variants in the gene have been associated with X-linked neurodevelopmental disorders in recent ...

    Authors: Juan Xiong, Haolin Duan, Shimeng Chen, Miriam Kessi, Fang He, Xiaolu Deng, Ciliu Zhang, Li Yang, Jing Peng and Fei Yin

    Citation: BMC Medical Genomics 2021 14:182

    Content type: Research

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  19. Breast cancer (BC) is the most invasive cancer with different subtypes that its metabolism is unique compared with normal cells. Glutamine is considered critical nutrition that many cancer cells, particularly ...

    Authors: Soheila Delgir, Khandan Ilkhani, Asma Safi, Yazdan Rahmati, Vahid Montazari, Zahra Zaynali-Khasraghi, Farhad Seif, Milad Bastami and Mohammad Reza Alivand

    Citation: BMC Medical Genomics 2021 14:180

    Content type: Research article

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  20. Many studies have proposed that the pathogenesis of obesity has a genetic basis, with an important risk factor being the presence of polymorphisms in the region of the TMEM18 gene, which plays a significant role ...

    Authors: Natalia Koj, Łukasz Grochowalski, Justyna Jarczak, Weronika Wójtowicz, Marta Sobalska-Kwapis, Marcin Słomka, Błażej Marciniak and Dominik Strapagiel

    Citation: BMC Medical Genomics 2021 14:179

    Content type: Research article

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  21. T-cell acute lymphoblastic leukemia is a subtype of acute lymphoblastic leukemia, one of the most common childhood neoplasms. Hypodiploidy is a chromosome abnormality with fewer than 45 chromosomes and is asso...

    Authors: Martyna Stefaniak, Gabriela Ręka, Joanna Zawitkowska and Monika Lejman

    Citation: BMC Medical Genomics 2021 14:178

    Content type: Case report

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  22. This study aimed to use whole-exome sequencing (WES) to diagnose ultra-rare renal diseases and the clinical impact of such an approach on patient care.

    Authors: Jiwon Jung, Joo Hoon Lee, Young Seo Park, Go Hun Seo, Changwon Keum, Hee Gyung Kang, Hajeong Lee, Sang Koo Lee, Sang Taek Lee, Heeyeon Cho and Beom Hee Lee

    Citation: BMC Medical Genomics 2021 14:177

    Content type: Research article

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  23. Huntingtin (Htt) protein is the product of the gene mutated in Huntington’s disease (HD), a fatal, autosomal dominant, neurodegenerative disorder. Normal Htt is essential for early embryogenesis and the develo...

    Authors: Johanna Bensalel, Hongyuan Xu, Michael L. Lu, Enrico Capobianco and Jianning Wei

    Citation: BMC Medical Genomics 2021 14:176

    Content type: Research article

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  24. Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS). The clinical manifestations of MPS II include skeletal deformities,...

    Authors: Chuan Zhang, Shengju Hao, ZhaoYan Meng, Ling Hui, Yan Wang, Feng Xuan, Xue Chen, Xing Wang, Furong Zheng, Lei Zheng, Bingbo Zhou, Xinqi Wu, Qinghua Zhang and Zongfu Cao

    Citation: BMC Medical Genomics 2021 14:175

    Content type: Research

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  25. Charcot–Marie–Tooth disease (CMT) is a group of genetically and clinically heterogeneous peripheral nervous system disorders. Few studies have identified genetic causes of CMT in the Pakistani patients.

    Authors: Sumaira Kanwal, Yu JIn Choi, Si On Lim, Hee Ji Choi, Jin Hee Park, Rana Nuzhat, Aneela khan, Shazia Perveen, Byung-Ok Choi and Ki Wha Chung

    Citation: BMC Medical Genomics 2021 14:174

    Content type: Research article

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  26. Primary adrenal insufficiency (PAI) is life-threatening, and a definitive aetiological diagnosis is essential for management and prognostication. We conducted this study to investigate the genetic aetiologies ...

    Authors: Zhuo Chang, Wei Lu, Zhuhui Zhao, Li Xi, Xiaojing Li, Rong Ye, Jinwen Ni, Zhou Pei, Miaoying Zhang, Ruoqian Cheng, Zhangqian Zheng, Chengjun Sun, Jing Wu and Feihong Luo

    Citation: BMC Medical Genomics 2021 14:172

    Content type: Research article

    Published on:

  27. Chronic lymphocytic leukemia (CLL) is an indolent heme malignancy characterized by the accumulation of CD5+ CD19+ B cells and episodes of relapse. The biological signaling that influence episodes of relapse in CL...

    Authors: Ti’ara L. Griffen, Eric B. Dammer, Courtney D. Dill, Kaylin M. Carey, Corey D. Young, Sha’Kayla K. Nunez, Adaugo Q. Ohandjo, Steven M. Kornblau and James W. Lillard Jr.

    Citation: BMC Medical Genomics 2021 14:171

    Content type: Research article

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  28. Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses, and flattened vertebral bodies. COL2A1 has been confirm...

    Authors: Kan Wu, Zhumei Li, Yuhua Zhu, Xiaocheng Wang, Guohui Chen, Zhaohui Hou and Qiujing Zhang

    Citation: BMC Medical Genomics 2021 14:170

    Content type: Research

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  29. Evidence from genetic epidemiology indicates that type 2 diabetes (T2D) has a strong genetic basis. Activated STAT4 has an inflammatory effect, and STAT4 is an important mediator of inflammation in diabetes. Our ...

    Authors: Jiaqi Cui, Rui Tong, Jing Xu, Yanni Tian, Juan Pan, Ning Wang, Huan Chen, Yanqi Peng, Sijia Fei, Wang Ling, Chaoying Guo, Juanchuan Yao and Wei Cui

    Citation: BMC Medical Genomics 2021 14:169

    Content type: Research article

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  30. Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention and hyperpigmention. ABCB6 and SASH1 are recently reported pathogenic genes...

    Authors: Lu Cao, Ruixue Zhang, Liang Yong, Shirui Chen, Hui Zhang, Weiwei Chen, Qiongqiong Xu, Huiyao Ge, Yiwen Mao, Qi Zhen, Yafen Yu, Xia Hu and Liangdan Sun

    Citation: BMC Medical Genomics 2021 14:168

    Content type: Research article

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  31. Data on the modalities of disclosing genomic secondary findings (SFs) remain scarce. We explore cancer patients’ and the general public’s perspectives about disclosing genomic SFs and the modalities of such di...

    Authors: Jude Emmanuel Cléophat, Michel Dorval, Zaki El Haffaf, Jocelyne Chiquette, Stephanie Collins, Benjamin Malo, Vincent Fradet, Yann Joly and Hermann Nabi

    Citation: BMC Medical Genomics 2021 14:167

    Content type: Research

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  32. Repeat elements constitute a large proportion of the human genome and recent evidence indicates that repeat element expression has functional roles in both physiological and pathological states. Specifically f...

    Authors: M. Onishi-Seebacher, G. Erikson, Z. Sawitzki, D. Ryan, G. Greve, M. Lübbert and T. Jenuwein

    Citation: BMC Medical Genomics 2021 14:166

    Content type: Research article

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  33. DNA polymerase epsilon (POLE) is encoded by the POLE gene, and POLE-driven tumors are characterized by high mutational rates. POLE-driven tumors are relatively common in endometrial and colorectal cancer, and the...

    Authors: Jaime I. Davila, Pritha Chanana, Vivekananda Sarangi, Zachary C. Fogarty, S. John Weroha, Ruifeng Guo, Ellen L. Goode, Yajue Huang and Chen Wang

    Citation: BMC Medical Genomics 2021 14:165

    Content type: Research

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  34. Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidenc...

    Authors: Chunyan Jin, Zhiping Gu, Xiaohan Jiang, Pei Yu and Tianhui Xu

    Citation: BMC Medical Genomics 2021 14:164

    Content type: Case report

    Published on:

  36. Genome-wide association studies have identified many single nucleotide polymorphisms (SNPs) associated with increased risk for intracranial aneurysm (IA). However, how such variants affect gene expression with...

    Authors: Kerry E. Poppenberg, Haley R. Zebraski, Naval Avasthi, Muhammad Waqas, Adnan H. Siddiqui, James N. Jarvis and Vincent M. Tutino

    Citation: BMC Medical Genomics 2021 14:162

    Content type: Research

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  37. Single cell sequencing of human heart tissue is technically challenging and methods to cryopreserve heart tissue for obtaining single cell information have not been standardized. Studies published to date have...

    Authors: Amy Larson and Michael T. Chin

    Citation: BMC Medical Genomics 2021 14:161

    Content type: Technical advance

    Published on:

  38. Karyomegalic interstitial nephritis (KIN) is a rare disease entity first described by Burry in 1974. The term KIN was introduced by Mihatsch et al. in 1979. KIN is characterized by chronic tubulointerstitial n...

    Authors: Imen Rejeb, Mouna Jerbi, Houweyda Jilani, Hanène Gaied, Yasmina Elaribi, Syrine Hizem, Raja Aoudia, Hafedh Hedri, Chiraz Zaied, Salwa Abid, Hassen Bacha, Taieb BenAbdallah, Lamia BenJemaa and Rim Goucha

    Citation: BMC Medical Genomics 2021 14:160

    Content type: Research article

    Published on:

  39. Recent scientific research has enabled the identification of macrophages related-genes (MaRG), which play a key role in the control of the immune microenvironment in many human cancers. However, the functional...

    Authors: Yingxiang Chen, Cui Zhang, Xiang Zou, Miao Yu, Bo Yang, Chen-Feng Ji, Shi-Yong Gao, Jun Li and Bin Liu

    Citation: BMC Medical Genomics 2021 14:159

    Content type: Research article

    Published on:

  41. Charcot-Marie-Tooth disease (CMT) type 4B3 (CMT4B3) is a rare form of genetic neuropathy associated with variants in the MTMR5/SBF1 gene. MTMR5/SBF1 is a pseudophosphatase predicted to regulate endo-lysosomal tra...

    Authors: Beatrice Berti, Giovanna Longo, Francesco Mari, Stefano Doccini, Ilaria Piccolo, Maria Alice Donati, Francesca Moro, Renzo Guerrini, Filippo M. Santorelli and Vittoria Petruzzella

    Citation: BMC Medical Genomics 2021 14:157

    Content type: Case report

    Published on:

  42. Genetic polymorphisms in the MTNR1B gene is associated with type 2 diabetes mellitus (T2DM); however, there is no evidence about its impact on the therapeutic efficacy of nateglinide. This prospective case–contro...

    Authors: Jin-Fang Song, Jie Zhang, Ming-Zhu Zhang, Jiang Ni, Tao Wang, Yi-Qing Zhao and Naveed Ullah Khan

    Citation: BMC Medical Genomics 2021 14:156

    Content type: Research

    Published on:

  43. COVID-19 is a respiratory viral infection with unique features including a more chronic course and systemic disease manifestations including multiple organ involvement; and there are differences in disease sev...

    Authors: Philip Kam Weng Kwan, Gail B. Cross, Claire M. Naftalin, Bintou A. Ahidjo, Chee Keng Mok, Felic Fanusi, Intan Permata Sari, Siok Ching Chia, Shoban Krishna Kumar, Rawan Alagha, Sai Meng Tham, Sophia Archuleta, October M. Sessions, Martin L. Hibberd and Nicholas I. Paton

    Citation: BMC Medical Genomics 2021 14:155

    Content type: Research

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  44. Structural rearrangements of the genome, which generally occur during meiosis and result in large-scale (> 1 kb) copy number variants (CNV; deletions or duplications ≥ 1 kb), underlie genomic disorders. Recurr...

    Authors: Trenell J. Mosley, H. Richard Johnston, David J. Cutler, Michael E. Zwick and Jennifer G. Mulle

    Citation: BMC Medical Genomics 2021 14:154

    Content type: Research article

    Published on:

  45. Refractive eye development is regulated by optical defocus in a process of emmetropization. Excessive exposure to negative optical defocus often leads to the development of myopia. However, it is still largely...

    Authors: Tatiana V. Tkatchenko and Andrei V. Tkatchenko

    Citation: BMC Medical Genomics 2021 14:153

    Content type: Research

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  46. Variants identified through parent–child trio-WES yield up to 28–55% positive diagnostic rate across a variety of Mendelian disorders, there remain numerous patients who do not receive a genetic diagnosis. Stu...

    Authors: Qiang Li, Yiting Wang, Yijun Pan, Jia Wang, Weishi Yu and Xiaodong Wang

    Citation: BMC Medical Genomics 2021 14:152

    Content type: Research

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  47. Milroy disease (MD) is a rare, autosomal-dominant disorder. Variants in the Fms-related tyrosine kinase 4 (FLT4/VEGFR3) gene cause the symptoms of this disease. In this report, we investigated the variant in a la...

    Authors: Yu Sui, Yongping Lu, Meina Lin, Xiang Ni, Xinren Chen, Huan Li and Miao Jiang

    Citation: BMC Medical Genomics 2021 14:151

    Content type: Research

    Published on:

  48. Oligonucleotide array comparative genomic hybridization (aCGH) analysis has been used for detecting somatic copy number alterations (CNAs) in various types of tumors. This study aimed to assess the clinical ut...

    Authors: Gang Peng, Hongyan Chai, Weizhen Ji, Yufei Lu, Shengming Wu, Hongyu Zhao, Peining Li and Qiping Hu

    Citation: BMC Medical Genomics 2021 14:150

    Content type: Research article

    Published on:

  49. Type 2 diabetes mellitus (T2DM) is mainly affected by genetic and environmental factors; however, the correlation of long noncoding RNAs (lncRNAs) with T2DM remains largely unknown.

    Authors: Hui Jiang, Peian Lou, Xiaoluo Chen, Chenguang Wu and Shihe Shao

    Citation: BMC Medical Genomics 2021 14:149

    Content type: Research article

    Published on:

  50. Skeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments ...

    Authors: Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah and Melita Irving

    Citation: BMC Medical Genomics 2021 14:148

    Content type: Research article

    Published on:

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