Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.L646I
Back to variants list

LDLR

NM_000527.5:p.L646I

Associated Papers

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

Meshkov A et al.

Genes, 2021

Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

Vasilyev V et al.

Frontiers in Genetics, 2020

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

Analysis of lipid metabolism and its impact on the risk of ischemic heart disease in patients with definite familial hypercholesterolemia.

Korneva V et al.

Atherosclerosis. Supplements, 2017

Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.

Korneva VA et al.

Cholesterol, 2017

[Familial hypercholesterolemia due to a new mutation in the low density lipoprotein receptor gene].

Korneva VA et al.

Klinicheskaia Meditsina, 2014

Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Komarova TY et al.

Bmc Medical Genetics, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."