Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E418*
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LDLR

NM_000527.5:p.E418*

Associated Papers

Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.

Souter V et al.

Circulation. Genomic and Precision Medicine, 2024

38506081 (PubMed )
Supplement: hcg-17-e004457-s001.docx

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

Meshkov A et al.

Genes, 2021

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

Guardamagna O et al.

The Journal of Pediatrics, 2009

[The spectrum of mutations in the low-density lipoprotein receptor gene in the Russian population].

Voevoda MI et al.

Genetika, 2008

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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."