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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
NMNAT1
Variant:
p.V212L
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NMNAT1
NM_022787.4:p.V212L
hg38:chr1:9982495 G>T
Frequencies & domains
Associated Papers
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Perrault I et al.
Nature Genetics,
2012
22842229 (PubMed
)
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