Varaico: Literature-Extracted Genetic Variants

Gene:PAX4
Variant:p.E188Splc
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PAX4

NM_001366110.1:p.E188Splc

Associated Papers

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.

Gomez VL et al.

Current Issues in Molecular Biology, 2026

Maturity-onset diabetes of the young type 9 or latent autoimmune diabetes in adults: A case report and review of literature.

Zhou GH et al.

World Journal of Diabetes, 2023

Pax4 in Health and Diabetes.

Ko J et al.

International Journal of Molecular Sciences, 2023

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

Sousa M et al.

International Journal of Molecular Sciences, 2022

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

Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment.

Jang KM

Yeungnam University Journal of Medicine, 2020

Generation and Phenotype Identification of PAX4 Gene Knockout Rabbit by CRISPR/Cas9 System.

Xu Y et al.

G3 (bethesda, Md.), 2018

Abnormalities in alternative splicing in diabetes: therapeutic targets.

Dlamini Z et al.

Journal of Molecular Endocrinology, 2017

PAX4 R192H and P321H polymorphisms in type 2 diabetes and their functional defects.

Sujjitjoon J et al.

Journal of Human Genetics, 2016

Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.

Yang Y et al.

Endocrine Reviews, 2016

Aberrant mRNA splicing of paired box 4 (PAX4) IVS7-1G>A mutation causing maturity-onset diabetes of the young, type 9.

Sujjitjoon J et al.

Acta Diabetologica, 2016

Maturity-onset diabetes of the young (MODY): an update.

Anık A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015

Impaired glucose tolerance and insulin resistance in survivors of childhood acute lymphoblastic leukemia: prevalence and risk factors.

Surapolchai P et al.

Journal of Pediatric Hematology/oncology, 2010

PAX4 mutations in Thais with maturity onset diabetes of the young.

Plengvidhya N et al.

The Journal of Clinical Endocrinology and Metabolism, 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."