Genetic characteristics and variation spectrum of ush2a-related retinitis pigmentosa and usher syndrome

HIGHLIGHTS

• who: Genetic Characteristics and colleagues from the College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China, BGI-Shenzhen, Shenzhen, China have published the research: Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome, in the Journal: (JOURNAL) of 15/09/2021
• what: The authors aimed to characterize the USH2A genotypic spectrum in a Chinese cohort and provide a detailed profile for Chinese patients with USH2A-IRD. In the study cohort, the focus was on the detection rate of etiological mutations and mutational spectrum of the USH2A gene in . . .
  

   

  

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