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Novel workflow closes the gap in detecting 5q-spinal muscular atrophy

Novel workflow closes the gap in detecting 5q-spinal muscular atrophy
medicalxpress.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medicalxpress.com Daily Mail and Mail on Sunday newspapers.

Stephanie Kleinle , Teresa Neuhann , Angela Abicht , Genetics Center , Department Of Neurology , Integrative Genomics Viewer , Neuromuscular Diseases , Medical Genetics Center , Human Phenotype Ontology , Spinal Muscular Atrophy , Short Read Next Generation Sequencing , Unexpected Results , Diagnostic Patient Cohort ,