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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
MYBPHL
Variant:
p.E2*
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MYBPHL
NM_001010985.3:p.E2*
hg38:chr1:109306988 C>A
Frequencies & domains
Associated Papers
Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia.
Tveten K et al.
Atherosclerosis,
2012
23102784 (PubMed
)
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