Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS et al.
American Journal of Human Genetics, 2024
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
Paul MS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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