Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.W810*
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LDLR

NM_000527.5:p.W810*

Associated Papers

Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene.

Pilz RA et al.

European Journal of Medical Genetics, 2025

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

Meshkov A et al.

Genes, 2021

Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.

Jelassi A et al.

Atherosclerosis, 2009

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