#retinitispigmentosa — Public Fediverse posts
Live and recent posts from across the Fediverse tagged #retinitispigmentosa, aggregated by home.social.
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Variations in U4 and U6 snRNA genes lead to retinitis pigmentosa.
🧬 153 RP cases found with RNU4-2 and RNU6 variants in 67 families
🧬 Variants located in U4/U6 duplex's vital junction
🧬 ~1.4% of undiagnosed RP cases explained by these variants
🧬 Potential impact on tri-snRNP splicing factors#Genomics #Spliceosome #RetinitisPigmentosa #NoncodingRNA #Pub2Post