Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

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Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

Author: Feichtinger, Rene G.; Mucha, Bettina E.; Hengel, Holger; Orfi, Zakaria; Makowski, Christine; Dort, Junio; D'Anjou, Guy; Thi Tuyet Mai Nguyen; Buchert, Rebecca; Juenger, Hendrik; Freisinger, Peter; Baumeister, Sarah; Schoser, Benedikt; Ahting, Uwe; Keimer, Reinhard; Nguyen, Cam-Tu Emilie; Fabre, Paul; Gauthier, Julie; Miguet, Marguerite; Lopes, Fatima; AlHakeem, Afnan; AlHashem, Amal; Tabarki, Brahim; Kandaswamy, Krishna Kumar; Bauer, Peter; Steinbacher, Peter; Prokisch, Holger; Sturm, Marc; Strom, Tim M.; Ellezam, Benjamin; Mayr, Johannes A.; Schoels, Ludger; Michaud, Jacques L.; Campeau, Philippe M.; Haack, Tobias B.; Dumont, Nicolas A.
Tübinger Autor(en):
Hengel, Holger
Buchert, Rebecca
Bauer, Peter
Sturm, Marc
Jünger, Hendrik
Schöls, Ludger
Haack, Tobias
Published in: Genetics in Medicine (2019), Bd. 21, H. 11, S. 2521-2531
Verlagsangabe: Nature Publishing Group
Language: English
Full text: http://dx.doi.org/10.1038/s41436-019-0532-z
ISSN: 1530-0366
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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