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LDLR
NM_000527.5:p.N316_L332delFs
Associated Papers
Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis.
Chora JR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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