Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.E187delFs
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PDX1

NM_000209.4:p.E187delFs

Associated Papers

Dominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: Lessons for precision medicine.

Kouidrat Y et al.

Diabetes & Metabolism, 2024

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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."