Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C27*
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LDLR

NM_000527.5:p.C27*

Associated Papers

Family hypercholesterolemia due to LDLR gene in Vietnamese children: characteristics of phenotype and genotype.

Do MTT et al.

Molecular Genetics and Metabolism Reports, 2025

Prevalence of genetically diagnosed familial hypercholesterolemia in Vietnamese patients with premature acute myocardial infarction.

Nguyen KM et al.

Medicine, 2024

Clinical Implications of Monogenic Versus Polygenic Hypercholesterolemia: Long-Term Response to Treatment, Coronary Atherosclerosis Burden, and Cardiovascular Events.

D'Erasmo L et al.

Journal of the American Heart Association, 2021

33890476 (PubMed )
Supplement: JAH3-10-e018932-s001.pdf

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

Wang H et al.

Journal of Atherosclerosis and Thrombosis, 2020

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Dušková L et al.

Atherosclerosis, 2011

Evaluation of high-resolution melting analysis for screening the LDL receptor gene.

Laurie AD et al.

Clinical Biochemistry, 2009

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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."