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Copy number variants from 4,800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

Erik-Jan Kamsteeg,Maartje Pennings,Rowdy Meijer,Monique Gerrits,Jannie Janssen,Rolph Pfundt,Nicole de Leeuw,Christian Gilissen,Thatjana Gardeitchik,Meyke Schouten,Nicol Voermans,Bart van de Warenburg

Research Square (Research Square)（2022）

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关键词
genetic diagnoses,movement disorders,muscle disorders,exomes,number variants
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