Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement
Titel:
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement
Auteur:
Protasoni, Margherita Bruno, Claudio Donati, Maria Alice Mohamoud, Khadra Severino, Mariasavina Allegri, Anna Robinson, Alan J. Reyes, Aurelio Zeviani, Massimo Garone, Caterina