Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.P753insFs
Back to variants list

LDLR

NM_000527.5:p.P753insFs

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

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Oetjens MT et al.

Nature Communications, 2019

31653860 (PubMed )
Supplement: 41467_2019_12869_MOESM3_ESM.xlsx › Testing_Cohort_Variants

Genetic identification of familial hypercholesterolemia within a single U.S. health care system.

Abul-Husn NS et al.

Science (new York, N.y.), 2016

28008010 (PubMed )
Supplement: aaf7000-abul-husn-sm.pdf
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."