Genetic & Genomic MedicinemedRxivPreprint
NEUROD1 and PDX1 are low penetrance causes of MODY while rare variants in APPL1 and WFS1 are not associated with MODY
Aparajita Sriram, Matthew Neil Wakeling, Andrew Tym Hattersley…·Kashyap Amratlal Patel
The paper assesses the genetic evidence for NEUROD1, PDX1, APPL1, and WFS1 in MODY, finding that only NEUROD1 and PDX1 variants are enriched, while APPL1 and WFS1 are not.
DOI 10.1101/2025.05.07.25327066