Varaico: Literature-Extracted Genetic Variants

Gene:NEUROD1
Variant:p.D122insFs
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NEUROD1

NM_002500.5:p.D122insFs

Associated Papers

Composite Digenic Diabetes Linked to Heterozygous Variants of <italic>GCK</italic> and <italic>NEUROD1</italic>: A Case Report.

Rapini N et al.

Hormone Research in Paediatrics, 2025

Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families.

Bawatneh A et al.

Frontiers in 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

Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?

Ali Khan I

Heliyon, 2021

Genetic Dissection and Clinical Features of MODY6 (NEUROD1-MODY).

Horikawa Y et al.

Current Diabetes Reports, 2019

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

Demirbilek H et al.

Pediatric Diabetes, 2018

Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.

Yang Y et al.

Endocrine Reviews, 2016

Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene.

Orosz O et al.

Molecular Vision, 2015

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Flanagan SE et al.

Cell Metabolism, 2014

Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities.

Rubio-Cabezas O et al.

Diabetes, 2010

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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."