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NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun 11, 4625 (2020).
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet 99, 1086-1105 (2016).
DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. Science 349, 742-7 (2015).