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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
APOB
Variant:
p.I2618T
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APOB
NM_000384.3:p.I2618T
hg38:chr2:21009015 A>G
Frequencies & domains
Associated Papers
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
Alves AC et al.
Human Molecular Genetics,
2014
24234650 (PubMed
)
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