Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C143W
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LDLR

NM_000527.5:p.C143W

Associated Papers

LDLR variant classification through activity-normalized prime editing screening.

Zhou PJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41473288 (PubMed )
Supplement: media-1.xlsx › SuppTable1

Functional characterization of 16 variants found in the LDL receptor gene.

Konečná K et al.

Journal of Lipid Research, 2025

Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

Mozas P et al.

Human Mutation, 2004

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