An intellectual disability syndrome with single nucleotide variants in O-GlcNAc Transferase

Veronica Pravata, Michaela Omelkova, Marios Stavridis, Chelsea M. Desbiens, Hannah M. Stephen, Dirk J. Lefeber, Jozef Gécz, Mehmet Gundogdu, Katrin Õunap, Shelagh Joss, Charles E. Schwartz, Lance Wells (Lead / Corresponding author), Daan van Aalten (Lead / Corresponding author)

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Medicine & Life Sciences