Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G636S
Back to variants list

LDLR

NM_000527.5:p.G636S

Associated Papers

Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

Stevens CAT et al.

Journal of the American Heart Association, 2024

38879446 (PubMed )
Supplement: JAH3-13-e034434-s001.pdf

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

The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.

Puckelwartz MJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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

Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.

Brusgaard K et al.

Clinical Genetics, 2006

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."