Open access
Jul 2026
INTS6 loss of function disrupts transcriptional regulation in mild intellectual disability
The discovery of a family with six affected members carrying a heterozygous loss- of-function variant in INTS6 highlights the critical role of INTS6 in transcriptional regulation of human neurodevelopment and reinforces its association with NDDs.
Nelli Jalkanen, K. Trontti, Antto J. Norppa et al.
· bioRxiv · 0 citations