Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C148G
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LDLR

NM_000527.5:p.C148G

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

Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.

Yip MK et al.

Genes, 2023

Management of Familial Hypercholesterolemia in Hong Kong.

Hu M et al.

Journal of Atherosclerosis and Thrombosis, 2016

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