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An Inversion Affecting the GCH1 Gene As a Novel Finding in Dopa-Responsive Dystonia

Shadi El-Wahsh,Avi Fellner,Matthew Hobbs, Joe Copty,Ira Deveson,Igor Stevanovski,Marion Stoll,Danqing Zhu,Ramesh K. Narayanan,Bianca Grosz,Lisa Worgan,Pak Leng Cheong,Dennis Yeow,Laura Rudaks,Md Mehedi Hasan, Vanessa M. Hayes,Marina Kennerson,Kishore R. Kumar,Michael Hayes

Movement Disorders Clinical Practice（2024）

Cited 0|Views40
Key words
dopamine responsive dystonia,GCH1,inversion,structural variants,whole genome sequencing,optical genome mapping
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