Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.P795R
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LDLR

NM_000527.5:p.P795R

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

Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion.

Strøm TB et al.

Human Molecular Genetics, 2017

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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."