Identi fi cation and functional characterization of a novel nonsense variant in arr3 in a southern chinese family with high myopia

HIGHLIGHTS

• who: Identification and collaborators from the University of Tennessee Health United States have published the article: Identi fi cation and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia, in the Journal: (JOURNAL)
• what: The authors reported an X-linked high myopia case and identified the associated genetic variant in a Southern Chinese family. X-chromosome inactivation could, however, not explain the phenotypes observed in this study since a nonsense_mutation was identified in an affected male hemizygote, while unaffected male hemizygotes carried a missense mutation in other . . .
  

   

  

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