Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G77insFs
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LDLR

NM_000527.5:p.G77insFs

Associated Papers

Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.

Weile J et al.

Bioinformatics (oxford, England), 2024

38569896 (PubMed )
Supplement: btae182_supplementary_data.pdf

Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries.

Weile J et al.

Biorxiv : the Preprint Server for Biology, 2023

36865234 (PubMed )
Supplement: media-1.pdf

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

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

Voevoda MI et al.

Genetika, 2008

[Genetic factors of risk of ischemic heart disease development in patients with familial hypercholesterolemia].

Meshkov AN et al.

Kardiologiia, 2005

[Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia.].

Meshkov AN et al.

Kardiologiia, 2004

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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."