Varaico: Literature-Extracted Genetic Variants

Gene:CPE
Variant:p.E26_P33delFs
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CPE

NM_001873.4:p.E26_P33delFs

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

The genetic elucidation of monogenic obesity in the Arab world: a systematic review.

AbouHashem N et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022

BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.

Bosch E et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

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

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

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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."