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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CHSY3
Variant:
p.G58D
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CHSY3
NM_175856.5:p.G58D
hg38:chr5:129905002 G>A
Frequencies & domains
Associated Papers
Mutations in SEC63 cause autosomal dominant polycystic liver disease.
Davila S et al.
Nature Genetics,
2004
15133510 (PubMed
)
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