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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
SNTB1
Variant:
p.G16R
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SNTB1
NM_021021.4:p.G16R
hg38:chr8:120811798 C>T
Frequencies & domains
Associated Papers
Missense mutations outside the catalytic domain of the ABO glycosyltransferase can cause weak blood group A and B phenotypes.
Seltsam A et al.
Transfusion,
2005
16181218 (PubMed
)
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