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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
OPA1
Variant:
p.S43insFs
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OPA1
NM_130837.3:p.S43insFs
hg38:chr3:193614815 A>AT
Frequencies & domains
Associated Papers
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.
Chen Y et al.
Molecular Vision,
2013
23401657 (PubMed
)
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