Varaico: Literature-Extracted Genetic Variants

Gene:CPE
Variant:p.R283W
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CPE

NM_001873.4:p.R283W

Associated Papers

Deletion of Carboxypeptidase E in β-Cells Disrupts Proinsulin Processing but Does Not Lead to Spontaneous Development of Diabetes in Mice.

Chen YC et al.

Diabetes, 2023

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

Durmaz A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2021

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

[Association of TIAM1 gene polymorphisms with Kawasaki disease and its clinical characteristics].

Wang X et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015

Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.

Alsters SI et al.

Plos One, 2015

Association of the mutation for the human carboxypeptidase E gene exon 4 with the severity of coronary artery atherosclerosis.

Jia EZ et al.

Molecular Biology Reports, 2009

Association of human carboxypeptidase E exon5 gene polymorphisms with angiographical characteristics of coronary atherosclerosis in a Chinese population.

Wang J et al.

Acta Pharmacologica Sinica, 2008

Molecular scanning of the human carboxypeptidase E gene for mutations in Chinese subjects with coronary atherosclerosis.

Jia EZ et al.

Molecular and Cellular Biochemistry, 2008

Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity.

Chen H et al.

Human Mutation, 2001

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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."