Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S326P
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LDLR

NM_000527.5:p.S326P

Associated Papers

Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.

Ryu J et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732177 (PubMed )
Supplement: media-3.zip › Supplementary_Tables › TableS7_tiling_screen.xlsx › TableSX_tiling_screen

Genetic investigation of Nordic patients with complement-mediated kidney diseases.

Rydberg V et al.

Frontiers in Immunology, 2023

The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.

Meshkov AN et al.

Journal of Personalized Medicine, 2021

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

Meshkov A et al.

Genes, 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."