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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1

Fig. 1

An M659 pedigree with neurofibromatosis type 1. A. M659 pedigree with neurofibromatosis type 1. No signs of NF1 individuals are shown as a clear circle (female) or square (male). The filled circle indicates the proband (II: 1, arrow) with the mutation of the NF1 gene: NM_001042492.3:exon37:c.4963delA:p.Thr1656Glnfs*42. A filled small oval shows an aborted baby. B. The detailed variants interpretation pipeline. C. The phenotype of neurofibromatosis type 1 in the proband (II:1)

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BMC Medical Genomics

ISSN: 1755-8794

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