Varaico: Literature-Extracted Genetic Variants

Gene:NEUROG3
Variant:p.L135P
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NEUROG3

NM_020999.4:p.L135P

Associated Papers

Novel Variants and Phenotypes in NEUROG3-Associated Syndrome.

Wejaphikul K et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

The application of precision medicine in monogenic diabetes.

Barbetti F et al.

Expert Review of Endocrinology & Metabolism, 2022

A Comprehensive Structure-Function Study of Neurogenin3 Disease-Causing Alleles during Human Pancreas and Intestinal Organoid Development.

Zhang X et al.

Developmental Cell, 2019

A New Case of Congenital Malabsorptive Diarrhea and Diabetes Secondary to Mutant Neurogenin-3.

Germán-Díaz M et al.

Pediatrics, 2017

Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency.

Rubio-Cabezas O et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Neurogenin 3 is important but not essential for pancreatic islet development in humans.

Rubio-Cabezas O et al.

Diabetologia, 2014

Extremely rare cause of congenital diarrhea: enteric anendocrinosis.

Sayar E et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2013

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.

Rubio-Cabezas O et al.

Diabetes, 2011

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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."