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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
GNAT2
Variant:
p.I319fs
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GNAT2
NM_001377295.2:p.I319fs
hg38:chr1:109603464 GAT>N
Frequencies & domains
Associated Papers
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Felden J et al.
Human Mutation,
2019
31058429 (PubMed
)
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