Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E113fs
Back to variants list

LDLR

NM_000527.5:p.E113fs

Associated Papers

A nationwide genetic and phenotypic spectrum of 63 probands of homozygous familial hypercholesterolemia in Taiwan.

Lin CF et al.

Journal of Clinical Lipidology, 2026

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Huang CC et al.

Journal of Atherosclerosis and Thrombosis, 2022

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Wong KHY et al.

Molecular Genetics & Genomic Medicine, 2019

Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry.

Chiou KR et al.

Journal of Clinical Lipidology, 0

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."