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First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.

Dominika OziębłoAnna SarosiakMarcin Ludwik LejaBirgit S BuddeGrażyna TacikowskaNataliya Di DonatoHanno J BolzPeter NürnbergHenryk SkarzynskiMonika Ołdak
Published in: Journal of translational medicine (2019)
Our data provide the first confirmation of PTPRQ involvement in ADNSHL. The finding strongly reinforces the inclusion of PTPRQ to the small set of genes leading to both autosomal recessive and dominant hearing loss.
Keyphrases
  • hearing loss
  • intellectual disability
  • genome wide
  • genome wide identification
  • electronic health record
  • gene expression
  • dna methylation
  • machine learning
  • deep learning
  • data analysis