GeneticsMolecular PsychiatryPeer-reviewed
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
Jérémie Courraud, Camille Engel, Angélique Quartier…·Amélie Piton
This study investigates the molecular consequences of PQBP1 deficiency in Renpenning syndrome by analyzing gene expression and protein interactions, identifying dysregulated genes and a novel UPF3B isoform.
10 citations