Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.P563fs
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LDLR

NM_000527.5:p.P563fs

Associated Papers

Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience.

Glotov OS et al.

Journal of Personalized Medicine, 2023

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Miroshnikova VV et al.

Biomedical Reports, 2021

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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."