Varaico: Literature-Extracted Genetic Variants

Gene:NEUROD1
Variant:p.L143delFs
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NEUROD1

NM_002500.5:p.L143delFs

Associated Papers

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

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1

Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.

Sousa M et al.

International Journal of Molecular Sciences, 2022

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

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

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."