Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.P63fs
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PDX1

NM_000209.4:p.P63fs

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

Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.

Younis H et al.

Journal of Personalized Medicine, 2022

Using Human Induced Pluripotent Stem Cell-Derived Organoids to Identify New Pathologies in Patients With PDX1 Mutations.

Krishnamurthy M et al.

Gastroenterology, 2022

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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."