Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E179V
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LDLR

NM_000527.5:p.E179V

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

Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor.

Pussadhamma B et al.

Scientific Reports, 2024

38514665 (PubMed )
Supplement: 41598_2024_57069_MOESM1_ESM.docx
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