Importance SNRNP200 is a recently identified genetic cause of autosomal dominant retinitis pigmentosa (RP). However, the associated retinal phenotype is not well characterized.Objective To describe the retinal phenotype in patients with RP secondary to variants in SNRNP200.Design, Setting, and ...
The detected variants were defined as ‘novel’ if it has neither been reported in the literature nor registered in the single nucleotide polymorphism database (dbSNP). Several criteria were observed to select and prioritize potentially disease-causing variants: (1) the variant was predicted to alte...
there has been limited success in targeting surface antigens in AML, in part due to shared expression across malignant and normal cells. Here, high-density immunophenotyping of AML coupled with proteogenomics identified unique expression of a variety of antigens, including the RNA helicase U5 snRN...