Jul 28, 2021SNRNPPre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and BeyondMutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15–20% of autosomal dominant RP cases.
Jan 21, 2021SNRNPSNRNP200 Mutations Cause Autosomal Dominant Retinitis PigmentosaThe SNRNP200 gene plays a key role in the maturation of pre-mRNA splicing with the indication for the etiology of retinitis pigmentosa (RP).
Mar 22, 2020SNRNPApproaches to Characterize novel pathogenic missense Variants in PRPF31RP, classified as a rare disease, is the most common cause of inherited blindness worldwide, affecting 1:3500, but extremely heterogeneous.
Jul 1, 2019SNRNPRetinitis pigmentosa caused by variants in SNRNP200SNRNP200 is a gene recently identified as a cause of autosomal dominant retinitis pigmentosa (RP).