Varaico: Literature-Extracted Genetic Variants

Gene:NEUROD1
Variant:p.P197H
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NEUROD1

NM_002500.5:p.P197H

Associated Papers

Transient islet-antigen 2 positivity at diagnosis of diabetes during COVID-19 infection in an adolescent with a NEUROD1 variant: a case report.

Yee JK et al.

Journal of Medical Case Reports, 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

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

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

Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.

Younis H et al.

Journal of Personalized Medicine, 2022

Precision Diagnosis of Maturity-Onset Diabetes of the Young with Next-Generation Sequencing: Findings from the MODY-IST Study in Adult Patients.

Aydogan HY et al.

Omics : a Journal of Integrative Biology, 2022

Monogenic Childhood Diabetes: Dissecting Clinical Heterogeneity by Next-Generation Sequencing in Maturity-Onset Diabetes of the Young.

Demirci DK et al.

Omics : a Journal of Integrative Biology, 2021

Neuronal Differentiation 1 gene Ala45Thr polymorphism and type 2 diabetes mellitus: A meta-analysis of 7,940 subjects.

Li YY et al.

Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2021

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

Abreu GM et al.

Molecular Genetics & Genomic Medicine, 2019

The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young.

Komazec J et al.

Endokrynologia Polska, 2019

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

Hocking JC et al.

Plos Genetics, 2018

Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention.

Billings LK et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

28453780 (PubMed )
Supplement: jc.2016-3429.st1.xlsx › Online_Supplemental_Table_1

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC1_ERR166303

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Johansen CT et al.

Journal of Lipid Research, 2014

24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf

Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1.

Gonsorcíková L et al.

Pediatric Diabetes, 2008

Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus.

Sagen JV et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2005

Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene.

Bacchelli E et al.

Molecular Psychiatry, 2003

NeuroD/BETA2 gene variability and diabetes: no associations to late-onset type 2 diabetes but an A45 allele may represent a susceptibility marker for type 1 diabetes among Danes. Danish Study Group of Diabetes in Childhood, and the Danish IDDM Epidemiology and Genetics Group.

Hansen L et al.

Diabetes, 2000

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.

Malecki MT et al.

Nature Genetics, 1999

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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."