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
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Montanaro FAM et al.
Frontiers in Psychiatry, 2023
PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene.
Pastore SF et al.
Genes, 2022
35328080 (PubMed )
Supplement: genes-13-00527-s001.zip › Supplementary_Table_S1.xlsx › Supplementary_Table_1
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