ABCB6 p.Ser322Leu
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PMID: 24498303
[PubMed]
Liu H et al: "Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria."
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Sentence
Comment
103
C: ABCB6 exon structure, where c.964A.C; p.S322L and c.1358C.T; p.A453V are DUH mutations identified in this paper, c.169G.A; p.A57T and c.2431C.G; p.L811V are coloboma mutations7 .
X
ABCB6 p.Ser322Leu 24498303:103:43
status: NEW