Varaico: Literature-Extracted Genetic Variants

Gene:CPE
Variant:p.Y135*
Back to variants list

CPE

NM_001873.4:p.Y135*

Associated Papers

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."