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Paper Details

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.
Parkinsonism Relat Disord
40
2019
ADCY5, ARSG rs11655081, ATM, CNVs, Dystonia, GLB1, GNAL, INTRODUCTION, KMT2B, PRKN, PRRT2, SGCE, SVs, THAP1, coding, copy number variants, dystonia, non-coding variants, rs11655081, structural variants
Author NameAffiliation
Mark J CowleyKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Australia Children's Cancer Institute, Australia St Vincent's Clinical School
Sarah K KummerfeldKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research
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