Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.R155S
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PDX1

NM_000209.4:p.R155S

Associated Papers

Prevalence and Clinical Characteristics of PDX1 Variant Induced Diabetes in Chinese Early-Onset Type 2 Diabetes.

Lian H et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene.

Goksen D et al.

Diabetes Research and Clinical Practice, 2023

A case of maturity-onset diabetes of the young type 4 in Korea.

Park GM et al.

Annals of Pediatric Endocrinology & Metabolism, 2023

Biophysical insights into glucose-dependent transcriptional regulation by PDX1.

Usher ET et al.

The Journal of Biological Chemistry, 2022

First Japanese Family With PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and Implications.

Yoshiji S et al.

Journal of the Endocrine Society, 2022

First Case Report of Maturity-Onset Diabetes of the Young Type 4 Pedigree in a Chinese Family.

Deng M et al.

Frontiers in Endocrinology, 2019

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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."