Varaico: Literature-Extracted Genetic Variants

Gene:PCSK1
Variant:p.S325N
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PCSK1

NM_000439.5:p.S325N

Associated Papers

Endoplasmic reticulum-associated degradation of the mouse PC1/3-N222D hypomorph and human PCSK1 mutations contributes to obesity.

Stijnen P et al.

International Journal of Obesity (2005), 2016

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.

Bonnefond A et al.

Diabetes Care, 2014

Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity.

Creemers JW et al.

Diabetes, 2012

Common nonsynonymous variants in PCSK1 confer risk of obesity.

Benzinou M et al.

Nature Genetics, 2008

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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."