Functional Characterization of a Novel Splice-Altering Intronic Variant in AMPD2 Associated with Pontocerebellar Hypoplasia Type 9

Articles > Article · 2026

Authors: Alp Peker, Bilgesu Ak, Ayça AYKUT, Haluk AKIN, Asude Durmaz

The Cerebellum, International, WoS, 2026, vol 25

DOI: 10.1007/s12311-026-02022-1

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