A de novo sequence variant in barrier-to-autointegration factor is associated with dominant motor neuronopathy

HIGHLIGHTS

• who: Agathe Marcelot and colleagues from the Institute for Integrative Biology of the Cell (I BC), CEA, CNRS, Universitu00e9 Paris-Saclay, Universitu00e9 Paris Citu00e9, Paris, France Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa have published the research: A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy, in the Journal: Cells 2023, 12, 847. of 23/02/2023
• what: The authors report the first dominant pathogenic BAF variant Gly16Arg identified in a patient presenting with progressive neuromuscular weakness. The authors show that this . . .
  

   

  

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