Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleExpanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.AuthorsStenton, Sarah L.; Piekutowska‐Abramczuk, Dorota; Kulterer, Lea; Kopajtich, Robert; Claeys, Kristl G.; Ciara, Elżbieta; Eisen, Johannes; Płoski, Rafał; Pronicka, Ewa; Malczyk, Katarzyna; Wagner, Matias; Wortmann, Saskia B.; Prokisch, HolgerPublicationHuman Mutation, 2021, Vol 42, Issue 3, p310ISSN1059-7794Publication typeArticleDOI10.1002/humu.24160