Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.P242_P243ins0
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PDX1

NM_000209.4:p.P242_P243ins0

Associated Papers

Variants of Unknown Significance in Maturity-Onset Diabetes of the Young: High Rate of Conundrum Resolution via Variants of Unknown Significance Reanalysis.

Alarcon G et al.

Hormone Research in Paediatrics, 2025

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

Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?

Majidi S et al.

Diabetes Technology & Therapeutics, 2018

29355436 (PubMed )
Supplement: sj-pdf-1-dtt-10.1089_dia.2017.0317.pdf

Genetic Confirmation Rate in Clinically Suspected Maturity-Onset Diabetes of the Young.

Brahm AJ et al.

Canadian Journal of Diabetes, 2016

Characteristics of maturity onset diabetes of the young in a large diabetes center.

Chambers C et al.

Pediatric Diabetes, 2016

Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family.

Cockburn BN et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

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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."