DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER
Wallid Deb, Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto, Virginie Vignard, Sylviane Marouillat, Louis Januel, Svetlana Gorokhova, Tiffany Busa, Victor Morel, Benjamin Dauriat, V. des Portes, Eyyüp Üçtepe, Ozlem Akgun Dogan, , Sébastien Küry
The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.
Molecular Psychiatry · Sep 16, 2026Peer-reviewedGenetic & Genomic Medicine