Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C89S
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LDLR

NM_000527.5:p.C89S

Associated Papers

Comorbidities and Molecular Genetics Status in Familial and Nonfamilial Hypercholesterolemia: A Single-Center Study.

Timoshchenko O et al.

International Journal of Molecular Sciences, 2026

41683642 (PubMed )
Supplement: ijms-27-01214-s001.zip › ijms-4006452-supplementary.pdf

Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning.

Ivanoshchuk DE et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2023

Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).

Shakhtshneider E et al.

Journal of Personalized Medicine, 2021

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey.

D'Erasmo L et al.

Orphanet Journal of Rare Diseases, 2021

34496902 (PubMed )
Supplement: 13023_2021_1999_MOESM1_ESM.docx

Autosomal recessive hypercholesterolaemia in a Morrocan family due to a mutation of the G266C LDL receptor.

El Aziz S et al.

Bmj Case Reports, 2012

Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening.

Campagna F et al.

Atherosclerosis, 2008

[Genetic factors of risk of ischemic heart disease development in patients with familial hypercholesterolemia].

Meshkov AN et al.

Kardiologiia, 2005

Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.

El Messal M et al.

Journal of Human Genetics, 2003

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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."