Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond
Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15–20% of autosomal dominant RP cases.
Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond
SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
Approaches to Characterize novel pathogenic missense Variants in PRPF31
Retinitis pigmentosa caused by variants in SNRNP200