Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.L672delFs
Back to variants list

LDLR

NM_000527.5:p.L672delFs

Associated Papers

Homozygous Familial Hypercholesterolemia in Canada: An Observational Study.

Brown L et al.

Jacc. Advances, 2023

Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia.

Chaudhry A et al.

Circulation. Genomic and Precision Medicine, 2023

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
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."