Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G663Splc
Back to variants list

LDLR

NM_000527.5:p.G663Splc

Associated Papers

Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank.

Gratton J et al.

Bmj Public Health, 2023

40017868 (PubMed )
Supplement: bmjph-1-1-s001.pdf

A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.

Gratton J et al.

Jacc. Advances, 2023

38938233 (PubMed )
Supplement: mmc1.docx

Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia.

Aparicio A et al.

Journal of Clinical Medicine, 2023

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.

Garcia-Garcia AB 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."