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Clinically Relevant Copy-Number Variants in Exome Sequencing Data of Patients with Dystonia

Michael Zech,Sylvia Boesch,Matej Skorvanek,Jan Necpal,Jana Svantnerova,Matias Wagner,Yasemin Dincer,Ariane Sadr-Nabavi,Teresa Serranova,Irena Rektorova,Petra Havrankova, Shahzaman Ganai,Alexandra Mosejova,Iva Prihodova,Jana Sarlakova,Kristina Kulcsarova,Olga Ulmanova,Karel Bechyne,Miriam Ostrozovicova,Vladimir Han,Joaquim Ribeiro Ventosa,Mohammad Shariati,Ali Shoeibi,Sandrina Weber,Brit Mollenhauer,Claudia Trenkwalder,Riccardo Berutti,Tim M. Strom,Andres Ceballos-Baumann,Volker Mall,Bernhard Haslinger,Robert Jech,Juliane Winkelmann

PARKINSONISM & RELATED DISORDERS（2021）

引用 17|浏览21
关键词
Copy-number variant,Dystonia,Read-depth analysis,Diagnostic yield
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