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Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenitaSpinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.Interplay between type 1A topoisomerases and gyrase in chromosome segregation in Escherichia coli.Depletion of RNase HI activity in Escherichia coli lacking DNA topoisomerase I leads to defects in DNA supercoiling and segregation.Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
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0000-0002-3623-690X