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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
GOSR1
Variant:
p.R78K
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GOSR1
NM_001007025.2:p.R78K
hg38:chr17:30484300 G>A
Frequencies & domains
Associated Papers
Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
Irum B et al.
Plos One,
2016
27814360 (PubMed
)
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