Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora, Elena, Sanjiban Chakrabarty, Georgios Kellaris, Makiko Tsutsumi, Francesca Bianco, Christian Bergamini, Farid Ullah, et al. 2021. “Biallelic Variants in LIG3 Cause a Novel Mitochondrial Neurogastrointestinal Encephalomyopathy.”. Brain : A Journal of Neurology 144 (5): 1451-66.