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Title:

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Document type:
Zeitschriftenaufsatz
Author(s):
Stenton, 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, Holger
Journal title:
Human Mutation
Year:
2021
Journal volume:
42
Journal issue:
3
Pages contribution:
310-319
Fulltext / DOI:
doi:10.1002/humu.24160
Publisher:
Wiley
E-ISSN:
1059-77941098-1004
Date of publication:
03.01.2021
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