Condition: RETINITIS PIGMENTOSA 33 (disorder)
rs1457428682 in
SNRNP200 gene and
RETINITIS PIGMENTOSA 33 (disorder)
PMID 21618346 2011 Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
PMID 19878916 2009 Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.
PMID 23045696 2012 Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome.
PMID 23887765 2013 Contribution of SNRNP200 sequence variations to retinitis pigmentosa.
PMID 16723661 2006 The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP.
PMID 23029027 2012 A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
PMID 19710410 2010 Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.
PMID 24319334 2013 Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.