New insight into the genotype-phenotype correlation of prph2-related diseases based on a large chinese cohort and literature review

HIGHLIGHTS

  • who: Yingwei Wang and colleagues from the State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, China have published the paper: New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review, in the Journal: (JOURNAL) of 21/03/2023
  • what: In this study variants in PRPH2 were selected from in-house exome sequencing data and all reported PRPH2 variants were evaluated with the assistance of online prediction tools and the comparative validation of . . .

     

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