splice site - Robuta Search

https://www.rcsb.org/structure/8R63

RCSB PDB - 8R63: Solution structure of branaplam bound to the RNA duplex formed upon 5'-splice site...

Solution structure of branaplam bound to the RNA duplex formed upon 5'-splice site recognition

rcsb pdb solution structure branaplam bound

https://pubmed.ncbi.nlm.nih.gov/9466990/

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in...

Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either retinitis pigmentosa (RP) or cone-rod...

cone rod dystrophy autosomal recessive retinitis pigmentosa caused

https://www.rti.org/publication/genome-wide-meta-analysis-reveals-common-splice-site-acceptor-variant-chrna4-associated-nicotine-dep

Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with...

We conducted a 1000 Genomes-imputed genome-wide association study (GWAS) meta-analysis for nicotine dependence, defined by the Fagerstrom Test for Nicotine...

meta analysis splice site genome wide reveals

https://pubmed.ncbi.nlm.nih.gov/35082396/

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant

Dilated cardiomyopathy (DCM) is characterized by cardiac enlargement and impaired ventricular contractility leading to heart failure. A single report...

dilated cardiomyopathy neonatal lethal due homozygous

https://www.jci.org/articles/view/117052/scanned-page/1040

JCI - Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in...

jci identification novel exonic mutation

https://www.rcsb.org/structure/5OR0

RCSB PDB - 5OR0: NMR derived model of the 5'-splice site of SMN2 in complex with the 5'-end of U1...

NMR derived model of the 5'-splice site of SMN2 in complex with the 5'-end of U1 snRNA

rcsb pdb nmr derived model splice

https://www.rcsb.org/structure/6XLW

RCSB PDB - 6XLW: Crystal structure of U2AF65 bound to AdML splice site sequence

Crystal structure of U2AF65 bound to AdML splice site sequence

rcsb pdb crystal structure bound