GeneticsbioRxivPreprint
INTS6 loss of function disrupts transcriptional regulation in mild intellectual disability
Nelli Jalkanen, Kalevi Trontti, Antto J. Norppa…·Olli P. H. Pietiläinen
The paper identifies a loss-of-function variant in INTS6 in a family with intellectual disability, showing transcriptomic effects including splicing defects and downregulation of synaptic genes.
DOI 10.64898/2026.07.17.737701