Varaico: Literature-Extracted Genetic Variants

Gene:PTCHD1
Variant:p.V150M
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PTCHD1

NM_173495.3:p.V150M

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

The driver landscape of sporadic chordoma.

Tarpey PS et al.

Nature Communications, 2017

29026114 (PubMed )
Supplement: 41467_2017_1026_MOESM5_ESM.xlsx › ST2
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