Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D256E
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LDLR

NM_000527.5:p.D256E

Associated Papers

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

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.

Leigh S et al.

Journal of Medical Genetics, 2017

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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."