Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C329F
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LDLR

NM_000527.5:p.C329F

Associated Papers

Primary care providers-initiated screening for familial hypercholesterolemia: a model proposed based on the Kordian primary prevention program for cardiovascular diseases.

Bobrowska B et al.

Polish Archives of Internal Medicine, 2026

LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.

Bogsrud MP et al.

European Heart Journal, 2025

41127896 (PubMed )
Supplement: ehaf815_supplementary_data.pdf

Unsupervised learning reveals landscape of local structural motifs across protein classes.

Derry A et al.

Bioinformatics (oxford, England), 2025

40569048 (PubMed )
Supplement: btaf377_supplementary_data.zip › Supplementary_material_PDF.pdf

Targeted sequencing of a gene panel in patients with familial hypercholesterolemia from Southern Poland.

Totoń-Żurańska J et al.

Polish Archives of Internal Medicine, 2023

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

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Galicia-Garcia U et al.

Scientific Reports, 2020

32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Sharifi M et al.

Metabolism: Clinical and Experimental, 2016

A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.

Waluś-Miarka M et al.

Molecular Biology Reports, 2012

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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."