Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.L645delFs
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PCSK9

NM_174936.4:p.L645delFs

Associated Papers

Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.

Shaik NA et al.

Frontiers in Physiology, 2023

Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.

Al-Allaf FA et al.

Gene, 2015

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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."