ABCB1 p.Ala947Val
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PMID: 16704350
[PubMed]
Brunham LR et al: "Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis."
No.
Sentence
Comment
550
However, a subset of mutations are associated with greater than 50% of control HDL levels, specifically T929I, A947V, R1680W, and W590S.
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ABCB1 p.Ala947Val 16704350:550:111
status: NEW