De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
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Published:2024-02
Issue:2
Volume:26
Page:101013
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Brunet TheresaORCID, 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 Matthias, Trepels-Kottek Sonja, Hasan Dimah, Scala Marcello, Capra Valeria, Zara Federico, van der Ven Amelie T., Driemeyer Joenna, Apitz Christian, Krämer Johannes, Strong Alanna, Hakonarson Hakon, Watson Deborah, Mayr Johannes A., Prokisch Holger, Meitinger Thomas, Borggraefe Ingo, Spiegler Juliane, Baric Ivo, Paolini Marco, Gerstl Lucia, Wagner Matias
Subject
Genetics (clinical)
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