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Fig. 3 | BMC Medical Genomics

Fig. 3

From: A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum

Fig. 3

Schematic illustration of gene and protein changes due to nonsense mutation c:712 C > T:p.Q238X in SALL4gene. a The normal sequence of the gene and the corresponding amino acid sequence have displayed on the left. The nucleotide conversion of C to T is shown in different colors (yellow). The altered sequence and the corresponding truncated protein are depicted on the right. b 7 out of 8 C2H2 zinc finger domains of SALL4 protein are deleted due to novel de novo nonsense mutation c:712 C > T (p.Q238X)

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BMC Medical Genomics

ISSN: 1755-8794

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