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

Makaleler > Tam Makale · 2026

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

The Cerebellum, Uluslararası, Wos, 2026, cilt 25

DOI: 10.1007/s12311-026-02022-1

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