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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
KCNA3
Variant:
p.V469I
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KCNA3
NM_002232.5:p.V469I
hg38:chr1:110673405 C>T
Frequencies & domains
Associated Papers
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
Reuter P et al.
Human Mutation,
2008
18521937 (PubMed
)
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