Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.C378W
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PCSK9

NM_174936.4:p.C378W

Associated Papers

Effects of the PCSK9 C378W Mutation on PCSK9 Levels and Lipid Profiles in Taiwanese Individuals: A Loss-of-Function Mutation with Potential Cardiovascular Benefits.

Wu S et al.

Genes, 2025

Drug development advances in human genetics-based targets.

Zhang X et al.

Medcomm, 2024

New Loss-of-Function Mutations in PCSK9 Reduce Plasma LDL Cholesterol.

Meng FH et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2023

Proteomics and Lipidomics to unveil the contribution of PCSK9 beyond cholesterol lowering: a narrative review.

Gianazza E et al.

Frontiers in Cardiovascular Medicine, 2023

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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."