Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.C18*
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PDX1

NM_000209.4:p.C18*

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

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

Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?

Ali Khan I

Heliyon, 2021

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

Ellard S et al.

Diabetologia, 2013

Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency.

De Franco E et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2013

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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."