Varaico: Literature-Extracted Genetic Variants

Gene:PCSK1
Variant:p.S357G
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PCSK1

NM_000439.5:p.S357G

Associated Papers

Functional analysis of PCSK2 coding variants: A founder effect in the Old Order Amish population.

Winters A et al.

Diabetes Research and Clinical Practice, 2017

PCSK1 Variants and Human Obesity.

Ramos-Molina B et al.

Progress in Molecular Biology and Translational Science, 2016

Revisiting PC1/3 Mutants: Dominant-Negative Effect of Endoplasmic Reticulum-Retained Mutants.

Blanco EH et al.

Endocrinology, 2015

Biochemical and cell biological properties of the human prohormone convertase 1/3 Ser357Gly mutation: a PC1/3 hypermorph.

Blanco EH et al.

Endocrinology, 2014

Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.

Martín MG et al.

Gastroenterology, 2013

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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."