Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
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Hum Mutat. 2021 Jul;42(7):848-861. doi: 10.1002/humu.24208. Epub 2021 May 3.
Hum Mutat. 2021.
PMID: 33856728
Free PMC article.