Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Q125K
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LDLR

NM_000527.5:p.Q125K

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-2.xlsx › SuppTable2

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

Structural Organization of the Retriever-CCC Endosomal Recycling Complex.

Boesch DJ et al.

Biorxiv : the Preprint Server for Biology, 2023

Genetic analysis of familial hypercholesterolaemia in Western Australia.

Hooper AJ et al.

Atherosclerosis, 2012

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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."