Whole-exome sequencing of pakistani consanguineous families identified pathogenic variants in genes of intellectual disability

HIGHLIGHTS

• who: Maria Asif and colleagues from the Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany have published the Article: Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability, in the Journal: Genes 2023, 14, 48. of 23/Dec/2022
• what: The authors report two consanguineous families with severe intellectual disability that were analyzed with next-generation sequencing, segregating a novel and known mutation in the genes of ARID.
• how: The authors used Agilent SureSelectXT HS Human All Exon . . .
  

   

  

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