Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.G394Splc
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PCSK9

NM_174936.4:p.G394Splc

Associated Papers

Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns.

Zhou Y et al.

Clinical Genetics, 2024

Association of PCSK9 Loss-of-Function Variants With Risk of Heart Failure.

Trudsø LC et al.

Jama Cardiology, 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."