Genomic study of nonsyndromic hearing loss in unaffected individuals: frequency of pathogenic and likely pathogenic variants in a brazilian cohort of 2,097 genomes

HIGHLIGHTS

• who: GJB and collaborators from the United States Memorial University of Newfoundland have published the research: Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes, in the Journal: (JOURNAL)
• what: The authors aimed to assess pathogenic and likely pathogenic variants associated with NSHL in a cohort of unaffected Brazilian individuals referred for genome sequencing. Several genes studied in the work had already been classified by the ClinGen Gene Curation Working Group and were used as standards for these genes. For . . .
  

   

  

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