Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.V66fs
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LDLR

NM_000527.5:p.V66fs

Associated Papers

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Sturm AC et al.

Jama Cardiology, 2021

34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf

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

Meshkov A et al.

Genes, 2021

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

Komarova TY et al.

Bmc Medical Genetics, 2013

Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.

Faiz F et al.

Atherosclerosis, 2013

Genetic analysis of familial hypercholesterolaemia in Western Australia.

Hooper AJ et al.

Atherosclerosis, 2012

[Clinical signs of homozygous familial hypercholesterolemia].

Malyshev PP et al.

Kardiologiia, 2002

[Current concepts of the pathogenesis of familial hypercholesterolemia].

Khandaker AKh et al.

Kardiologiia, 1988

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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."