Varaico: Literature-Extracted Genetic Variants

Gene:NEUROD1
Variant:p.H206fs
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NEUROD1

NM_002500.5:p.H206fs

Associated Papers

Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY.

Sriram A et al.

Diabetes, 2025

Prevalence and Clinical Characteristics of NEUROD1-MODY in Chinese Early-Onset Type 2 Diabetes Mellitus and a Literature Review.

Ba T et al.

Journal of Diabetes, 2025

Case Report: Misdiagnosis of Maturity-Onset Diabetes of the Young as type 1, type 2 or gestational diabetes: insights from a Latin American tertiary center.

Ruiz-Urbaez R et al.

Frontiers in Medicine, 2025

A novel nonsense mutation c.747C>G in the NEUROD1 gene detected within a Chinese family affected by maturity-onset diabetes of the young type 6.

Li Y et al.

Journal of Diabetes, 2024

The first case of NEUROD1-MODY reported in Latin America.

Abreu GM et al.

Molecular Genetics & Genomic Medicine, 2019

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

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."