Systematic evaluation of genetic mutations in als: a population-based study

HIGHLIGHTS

• who: Short report et al. from the Department of Neuroscience, University of Turin, have published the Article: Systematic evaluation of genetic mutations in ALS: a population-based study, in the Journal: (JOURNAL)
• what: In the process, this study builds on the previous work, where the authors showed that whole-u00ad genome sequencing is a reliable tool to assess gene burden effects . The authors show that whole-u00ad genome sequencing increases diagnostic yield and facilitates the assessment of the pathogenic role of involved genes.
• how: The authors estimated the repeat lengths of the C9orf72 . . .
  

   

  

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