Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Q686*
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LDLR

NM_000527.5:p.Q686*

Associated Papers

Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

Ibrahim S et al.

Circulation. Genomic and Precision Medicine, 2023

37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Du Z et al.

Iscience, 2022

36325061 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

Mickiewicz A et al.

Life (basel, Switzerland), 2020

32443900 (PubMed )
Supplement: life-10-00073-s001.pdf

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

The UMD-LDLR database: additions to the software and 490 new entries to the database.

Villéger L et al.

Human Mutation, 2002

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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."