Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.Q382*
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PCSK9

NM_174936.4:p.Q382*

Associated Papers

Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.

Dron JS et al.

Jama Cardiology, 2023

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

Trudsø LC et al.

Jama Cardiology, 2023

Association of Common and Rare Genetic Variation in the 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Gene and Cataract Risk.

Ghouse J et al.

Journal of the American Heart Association, 2022

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
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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."