Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.W813*
Back to variants list

LDLR

NM_000527.5:p.W813*

Associated Papers

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Du Z et al.

Iscience, 2022

36325061 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.

Wang H et al.

Journal of Atherosclerosis and Thrombosis, 2020

In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.

Morad FA et al.

Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, 2018

Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.

Jelassi A et al.

Atherosclerosis, 2009

Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.

Bamimore MA 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."