Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.I161N
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LDLR

NM_000527.5:p.I161N

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

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

Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.

Murdock DR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1
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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."