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Title:

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

Document type:
Zeitschriftenaufsatz
Author(s):
Brunet, Theresa; Zott, Benedikt; Lieftüchter, Victoria; Lenz, Dominic; Schmidt, Axel; Peters, Philipp; Kopajtich, Robert; Zaddach, Malin; Zimmermann, Hanna; Hüning, Irina; Ballhausen, Diana; Staufner, Christian; Bianzano, Alyssa; Hughes, Joanne; Taylor, Robert W.; McFarland, Robert; Devlin, Anita; Mihaljević, Mihaela; Barišić, Nina; Rohlfs, Meino; Wilfling, Sibylle; Sondheimer, Neal; Hewson, Stacy; Marinakis, Nikolaos M.; Kosma, Konstantina; Traeger-Synodinos, Joanne; Elbracht, Miriam; Begemann,...     »
Journal title:
Genetics in Medicine
Year:
2024
Journal volume:
26
Journal issue:
2
Pages contribution:
101013
Fulltext / DOI:
doi:10.1016/j.gim.2023.101013
Publisher:
Elsevier BV
E-ISSN:
1098-3600
Date of publication:
01.02.2024
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