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Variable Expressivity of KMT2B Variants at Codon 2565 in Patients with Dystonia and Developmental Disorders

Antonia M. Stehr, Jan Fischer,Nazanin Mirza-Schreiber,Katerina Bernardi,Joseph Porrmann,Philip Harrer,Frank Kaiser,Rami Abou Jamra,Juliane Winkelmann,Robert Jech,Anne Koy,Konrad Oexle,Michael Zech

Parkinsonism & Related Disorders（2025）

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关键词
KMT2B,recurrent variation,episignature,variable expressivity,dystonia,developmental disease
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