Article

Rare variants in<i>PPFIA3</i>cause delayed development, intellectual disability, autism, and epilepsy

2023-03-29

Abstract excerpt

PPFIA3 encodes the Protein-Tyrosine Phosphatase, Receptor-Type, F Polypeptide-Interacting Protein Alpha-3 (PPFIA3), which is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family involved in synaptic vesicle transport and presynaptic active zone assembly. The protein structure and function are well conserved in both invertebrates and vertebrates, but human diseases related to PPFIA3...

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Literature Corpus work: 2b31f877-29ed-5ac3-bb35-496186add2a9
DOI: 10.1101/2023.03.27.23287689

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