Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C681W
Back to variants list

LDLR

NM_000527.5:p.C681W

Associated Papers

Genomic Drivers of Coronary Artery Disease and Risk of Future Outcomes After Coronary Angiography.

Supriami K et al.

Jama Network Open, 2025

39836422 (PubMed )
Supplement: jamanetwopen-e2455368-s001.pdf

The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Jiang L et al.

Scientific Reports, 2015

26608663 (PubMed )
Supplement: srep17272-s1.doc

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

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Dušková L et al.

Atherosclerosis, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."