Varaico: Literature-Extracted Genetic Variants

Gene:NEUROG3
Variant:p.R93L
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NEUROG3

NM_020999.4:p.R93L

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

The genetics of monogenic intestinal epithelial disorders.

Babcock SJ et al.

Human Genetics, 2023

The application of precision medicine in monogenic diabetes.

Barbetti F et al.

Expert Review of Endocrinology & Metabolism, 2022

Null mutations of NEUROG3 are associated with delayed-onset diabetes mellitus.

Solorzano-Vargas RS et al.

Jci Insight, 2020

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

Phosphorylation of NEUROG3 Links Endocrine Differentiation to the Cell Cycle in Pancreatic Progenitors.

Krentz NAJ et al.

Developmental Cell, 2017

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

Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence.

Pinney SE et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

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

Rubio-Cabezas O et al.

Diabetes, 2011

Mutant neurogenin-3 in congenital malabsorptive diarrhea.

Jensen JN et al.

The New England Journal of Medicine, 2007

Mutant neurogenin-3 in congenital malabsorptive diarrhea.

Wang J et al.

The New England Journal of Medicine, 2006

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