Associated Papers
Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice.
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Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
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Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.
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Biological Psychiatry, 2022
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