Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C34W
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LDLR

NM_000527.5:p.C34W

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

OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues.

Larrea-Sebal A et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024

38258479 (PubMed )
Supplement: ADVS-11-2305177-s001.pdf

Defining the Cell Surface Cysteinome Using Two-Step Enrichment Proteomics.

Yan T et al.

Jacs Au, 2023

Defining the Cell Surface Cysteinome using Two-step Enrichment Proteomics.

Yan T et al.

Biorxiv : the Preprint Server for Biology, 2023

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Di Taranto MD et al.

Clinical Genetics, 2021

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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."