Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C302F
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LDLR

NM_000527.5:p.C302F

Associated Papers

Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.

Zhang Q et al.

Bmc Pediatrics, 2023

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.

Meshkov AN et al.

Journal of Personalized Medicine, 2021

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Meshkov A et al.

Genes, 2021

Prediction of subtle left ventricular systolic dysfunction in homozygous and heterozygous familial hypercholesterolemia: Genetic analyses and speckle tracking echocardiography study.

Saracoglu E et al.

Echocardiography (mount Kisco, N.y.), 2018

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Wintjens R et al.

Journal of Lipid Research, 2016

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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."