Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.R185insFs
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LDLR

NM_000527.5:p.R185insFs

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

Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.

Rieck L et al.

Clinical Genetics, 2020

Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

Ebhardt M et al.

Human Mutation, 1999

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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."