ABCA6 p.Cys1359Arg
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PMID: 25751400
[PubMed]
van Leeuwen EM et al: "Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels."
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3
We report the discovery of five novel associations at four loci (P value o6.61 10 4), including a rare missense variant in ABCA6 (rs77542162, p.Cys1359Arg, frequency 0.034), which is predicted to be deleterious.
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ABCA6 p.Cys1359Arg 25751400:3:146
status: NEW