Varaico: Literature-Extracted Genetic Variants

Gene:PTCHD1
Variant:p.T602A
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PTCHD1

NM_173495.3:p.T602A

Associated Papers

The PTCHD1 protein: A prominent actor in brain function and in neurodevelopmental disorders.

Ung DC et al.

Neuroscience and Biobehavioral Reviews, 2025

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

Identification of Novel Gene Variants for Autism Spectrum Disorders in the Lebanese Population Using Whole-Exome Sequencing.

Gerges P et al.

Genes, 2022

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