Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.V177M
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PDX1

NM_000209.4:p.V177M

Associated Papers

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

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 in India - a distinctive mutation pattern identified through targeted next-generation sequencing.

Chapla A et al.

Clinical Endocrinology, 2015

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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."