Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.V423A
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PCSK9

NM_174936.4:p.V423A

Associated Papers

Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan.

Hsiung YC et al.

Atherosclerosis, 2018

Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia.

Wu WF et al.

Plos One, 2014

LDL-receptor mutations in Europe.

Dedoussis GV et al.

Human Mutation, 2004

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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."