Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C340F
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LDLR

NM_000527.5:p.C340F

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

Diagnosis of Familial Hypercholesterolemia in Children and Young Adults.

Timoshchenko O et al.

International Journal of Molecular Sciences, 2023

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

Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia.

Chaudhry A et al.

Circulation. Genomic and Precision Medicine, 2023

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

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

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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."