Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.G136Splc
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PDX1

NM_000209.4:p.G136Splc

Associated Papers

Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes.

Sampathkumar G et al.

Journal of Endocrinological Investigation, 2022

Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes.

Edghill EL et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2011

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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."