Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.

Protasoni M, Bruno C, Donati MA, Mohamoud K, Severino M, Allegri A, Robinson AJ, Reyes A, Zeviani M, Garone C
Mol Genet Metab. 2020 Jan;129(1):26-34. doi: 10.1016/j.ymgme.2019.11.003. Epub 2019 Nov 21. PubMed Article

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