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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
SOX17
Variant:
p.A112A
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SOX17
NM_022454.4:p.A112A
hg38:chr8:54459086 G>C
Frequencies & domains
Associated Papers
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
Chaoui A et al.
Human Mutation,
2011
21898658 (PubMed
)
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