Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A19T
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LDLR

NM_000527.5:p.A19T

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-5.xlsx › SuppTable5

Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.

Levy ME et al.

Circulation. Genomic and Precision Medicine, 2025

41190428 (PubMed )
Supplement: hcg-18-e005206-s002.xlsx › LDLR

Evolocumab Treatment in Pediatric Patients With Homozygous Familial Hypercholesterolemia: Pooled Data From Three Open-Label Studies.

Raal FJ et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2024

38545781 (PubMed )
Supplement: atv-44-1156-s001.pdf

Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, China.

Andreotti G et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2008

Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

Srivastava K et al.

Mutation Research, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."