Genetic & Genomic MedicineMolecular PsychiatryPeer-reviewed
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER
Wallid Deb, Thomas Besnard, Florence Desprez…·Sébastien Küry
The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.
DOI 10.1038/s41380-026-03877-w