TThe Cerebellum14d agoFunctional Characterization of a Novel Splice-Altering Intronic Variant in AMPD2 Associated with Pontocerebellar Hypoplasia Type 9Alp Peker·Asude DURMAZ·Ayca Aykut·Haluk Akın·Bilgesu AkRead at The CerebellumTagsFetal and Pediatric Neurological DisordersPediatrics, Perinatology and Child Health