Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.P87L
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PDX1

NM_000209.4:p.P87L

Associated Papers

Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes.

Jeffery N et al.

Bmj Open Diabetes Research & Care, 2024

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

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

Ali Khan I

Heliyon, 2021

Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report.

Sahebi L et al.

Journal of Medical Case Reports, 2019

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."