TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
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Published:2020-09
Issue:9
Volume:22
Page:1489-1497
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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:
Ogórek Barbara, Hamieh Lana, Hulshof Hanna M., Lasseter Kathryn, Klonowska Katarzyna, Kuijf Hugo, Moavero Romina, Hertzberg Christoph, Weschke Bernhard, Riney Kate, Feucht Martha, Scholl Theresa, Krsek Pavel, Nabbout Rima, Jansen Anna C., Benova Barbora, Aronica Eleonora, Lagae Lieven, Curatolo Paolo, Borkowska Julita, Sadowski Krzysztof, Domańska-Pakieła Dorota, Janson Stef, Kozlowski Piotr, Urbanska Malgorzata, Jaworski Jacek, Jozwiak Sergiusz, Jansen Floor E., Kotulska Katarzyna, Kwiatkowski David J.ORCID
Subject
Genetics (clinical)
Cited by
63 articles.
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