Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability.
Xie CTY, Pastore SF, Vincent JB, Frankland PW, Hamel PA
Cells. 2024 Jan 21;13(2):199. doi: 10.3390/cells13020199.
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