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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ACTB
Variant:
p.V10I
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ACTB
NM_001101.5:p.V10I
hg38:chr7:5529630 C>T
Frequencies & domains
Associated Papers
An exonic missense mutation c.28G>A is associated with weak B blood group by affecting RNA splicing of the ABO gene.
Cai X et al.
Transfusion,
2017
28653406 (PubMed
)
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