Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C128*
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LDLR

NM_000527.5:p.C128*

Associated Papers

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.

Dzhumaniiazova I et al.

Genes, 2025

41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1

SNPs: impact on gene function and phenotype.

Shastry BS

Methods in Molecular Biology (clifton, N.j.), 2009

Phosphorylation region of the yeast plasma-membrane H+-ATPase. Role in protein folding and biogenesis.

DeWitt ND et al.

The Journal of Biological Chemistry, 1998

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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."