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

Title
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes
Authors
Keywords
NFS1, Iron‑sulfur clusters, Mitochondrial disease, Intra-familial variability, Hot-spot variant
Journal
Molecular Genetics and Metabolism Reports
Volume 26, Issue -, Pages 100699
Publisher
Elsevier BV
Online
2020-12-31
DOI
10.1016/j.ymgmr.2020.100699

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