Varaico: Literature-Extracted Genetic Variants

Gene:NEUROD1
Variant:p.E59Q
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NEUROD1

NM_002500.5:p.E59Q

Associated Papers

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

40148250 (PubMed )
Supplement: JDB-17-e70080-s001.docx

Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.

Huerta-Chagoya A et al.

Nature Genetics, 2024

39379762 (PubMed )
Supplement: 41588_2024_1947_MOESM4_ESM.xlsx › T8

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.

Schroeder P et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808701 (PubMed )
Supplement: media-2.xlsx › T6

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

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.

Chakrabarty S et al.

Journal of Neurology, 2021

Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - A review.

Aarthy R et al.

Journal of Diabetes and Its Complications, 2021

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

Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.

Doddabelavangala Mruthyunjaya M et al.

Plos One, 2017

Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing.

Chapla A et al.

Clinical Endocrinology, 2015

Our Experiences and Learnings in Diagnosing MODY from Non-Institutional-Based Diabetes Care Clinics.

Pande AR et al.

Indian Journal of Endocrinology and Metabolism, 0

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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."