A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes.
Hershkovitz T, Kurolap A, Tal G, Paperna T, Mory A, Staples J, Brigatti KW, Regeneron Genetics Center, Gonzaga-Jauregui C, Dumin E, et al. Mol Genet Metab Rep. 2021 Mar; 26:100699. Epub 2020 Dec 30.