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Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study

Michael Zech,Robert Jech,Sylvia Boesch,Matej Skorvanek,Jan Necpal,Jana Svantnerova,Matias Wagner,Ariane Sadr-Nabavi,Felix Distelmaier,Martin Krenn,Tereza Serranova,Irena Rektorova,Petra Havrankova,Alexandra Mosejova,Iva Prihodova,Jana Sarlakova,Kristina Kulcsarova,Olga Ulmanova,Karel Bechyne,Miriam Ostrozovicova,Vladimir Han,Joaquim Ribeiro Ventosa,Theresa Brunet,Riccardo Berutti,Mohammad Shariati,Ali Shoeibi,Susanne A. Schneider,Alice Kuster,Matthias Baumann,David Weise,Friederike Wilbert,Wibke G. Janzarik,Matthias Eckenweiler,Volker Mall,Bernhard Haslinger,Steffen Berweck,Juliane Winkelmann,Konrad Oexle

Movement Disorders（2021）

引用 13|浏览29
关键词
exome sequencing,diagnostic yield,dystonia,prediction,scoring algorithm,rare disease
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