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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
SEMA4A
Variant:
p.I2V
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SEMA4A
NM_001193302.2:p.I2V
hg38:chr1:156158070 A>G
Frequencies & domains
Associated Papers
Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes.
Jungtrakoon P et al.
Diabetes,
2019
30833467 (PubMed
)
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