A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Tova Hershkovitz, Alina Kurolap, Galit Tal, Tamar Paperna, Adi Mory, Jeffrey Staples, Karlla W. Brigatti, Regeneron Genetics Center, Claudia Gonzaga-Jauregui, Elena Dumin, Ann Saada, Hanna Mandel, Hagit Baris Feldman

Source: Molecular Genetics and Metabolism Reports - December 31, 2020 Category: Genetics & Stem Cells Source Type: research