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Increased Diagnostic Yield in Complex Dystonia Through Exome Sequencing.

Thomas Wirth,Christine Tranchant,Nathalie Drouot,Boris Keren,Cyril Mignot,Laura Cif,Romain Lefaucheur,Laurence Lion-Francois,Aurelie Meneret,Domitille Gras,Emmanuel Roze,Cecile Laroche,Pierre Burbaud,Stephanie Bannier,Ouhaid Lagha-Boukbiza,Marie-Aude Spitz,Vincent Laugel,Matthieu Bereau,Emmanuelle Ollivier,Patrick Nitschke,Diane Doummar,Gabrielle Rudolf,Mathieu Anheim,Jamel Chelly

Parkinsonism & Related Disorders（2020）

引用 42|浏览70
关键词
Dystonia,Next generation sequencing,Genetic diagnosis,Phenotype,Exome
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