Associated Papers
Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking.
Pastore SF et al.
Biological Psychiatry Global Open Science, 2025
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability.
Xie CTY et al.
Cells, 2024
Select a paper to view details