Phenotypic and genetic characteristics in a cohort of patients with usher genes

HIGHLIGHTS

  • who: Helena M. Feenstra and colleagues from the Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of, DU, UK have published the article: Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes, in the Journal: Genes 2022, 13, x FOR PEER REVIEW of 10/06/2022
  • what: The authors propose that patients with severe variants, which produce a truncated protein that is predicted to undergo nonsense-mediated decay, will develop a more severe phenotype that includes hearing loss due to a very low amount of_(or no) functioning protein, which . . .

     

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