Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G593fs
Back to variants list

LDLR

NM_000527.5:p.G593fs

Associated Papers

Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia.

Moradi A et al.

Frontiers in Genetics, 2021

The study of familial hypercholesterolemia in Italy: A narrative review.

Bertolini S et al.

Atherosclerosis. Supplements, 2017

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

Bertolini S et al.

Atherosclerosis, 2013

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."