Varaico: Literature-Extracted Genetic Variants

Gene:PCSK2
Variant:p.R81H
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PCSK2

NM_002594.5:p.R81H

Associated Papers

Heterozygous rare genetic variants in non-syndromic early-onset obesity.

Serra-Juhé C et al.

International Journal of Obesity (2005), 2020

30926952 (PubMed )
Supplement: 41366_2019_357_MOESM6_ESM.xlsx › Suppl_2_Controls_RSVs

Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.

Gopal RK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

29915083 (PubMed )
Supplement: pnas.1711888115.sd01.xlsx › Exome_Variants
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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."