PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
Titel:
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
Auteur:
Shaheen, Ranad Tasak, Monika Maddirevula, Sateesh Abdel-Salam, Ghada M. H. Sayed, Inas S. M. Alazami, Anas M. Al-Sheddi, Tarfa Alobeid, Eman Phizicky, Eric M. Alkuraya, Fowzan S.