Varaico: Literature-Extracted Genetic Variants

Gene:NEUROD1
Variant:p.T45A
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NEUROD1

NM_002500.5:p.T45A

Associated Papers

Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.

Yarali O et al.

Molecular Syndromology, 2025

Identification of genetic risk variants for Type-2 Diabetes mellitus in Pakistani Pashtun population: A case-control association study.

Jan A et al.

Pakistan Journal of Medical Sciences, 2024

Development and Characterisation of a New Patient-Derived Xenograft Model of AR-Negative Metastatic Castration-Resistant Prostate Cancer.

Turnham DJ et al.

Cells, 2024

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Evaluation of Type 2 Diabetes Risk Variants (Alleles) in the Pashtun Ethnic Population of Pakistan.

Jan A et al.

Journal of the Asean Federation of Endocrine Societies, 2023

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

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan.

Jan A et al.

Journal of Diabetes Research, 2021

34258292 (PubMed )
Supplement: 6669731.f1.zip › 6669731.f1 › 6669731.f1.pdf

Whole exome sequencing reveals novel candidate gene variants for MODY.

Yalçın Çapan Ö et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index

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

Functional nonsynonymous single nucleotide polymorphisms from the TGF-beta protein interaction network.

Savas S et al.

Physiological Genomics, 2007

Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes.

Willer CJ et al.

Diabetes, 2007

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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."