Varaico: Literature-Extracted Genetic Variants

Gene:CEL
Variant:p.P595delFs
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CEL

NM_001807.6:p.P595delFs

Associated Papers

Novel variation in the CEL gene causing impaired fasting glucose in a Chinese pediatric patient: case report and literature review.

Su C et al.

Frontiers in Endocrinology, 2026

Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes.

Sun S et al.

Endocrine, 2024

Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.

Khan E et al.

Global Medical Genetics, 2023

Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.

Sousa M et al.

International Journal of Molecular Sciences, 2022

Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.

El Jellas K et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Pancreatic adenocarcinoma, chronic pancreatitis, and MODY-8 diabetes: is bile salt-dependent lipase (or carboxyl ester lipase) at the crossroads of pancreatic pathologies?

Lombardo D et al.

Oncotarget, 2018

Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.

Sahin-Tóth M

Current Opinion in Gastroenterology, 2017

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

Ellard S et al.

Diabetologia, 2013

Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry.

Irgens HU et al.

Diabetologia, 2013

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.

Raeder H et al.

Nature Genetics, 2006

The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity.

Gravdal A et al.

The Journal of Biological Chemistry, 0

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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."