Rare splice and missense variants with evidence of pathogenicity in consanguineous families with autosomal recessive intellectual disability from Pakistan
Abdul Waheed, Robert J. M. Eveleigh, Danielle S. Perley, Janick St-Cyr, François Lefebvre, Abdul Hameed Khan, Zarqash Majeed, Abrish Majeed, Katerina Trajanoska, Raquel Cuella-Martin, Claude Bhérer, Ghazanfar Ali, Vincent Mooser, Daniel Taliun
medRxiv · Jan 8, 2024 · PreprintGenetic & Genomic Medicine