Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_provenance.
- NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_assertion description "[We conclude that CCMS is due to heterozygous mutations in SNRPB, enhancing inclusion of a SNRPB PTC-introducing alternative exon, and show that this developmental disease is caused by defects in the splicing machinery.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_provenance.
- NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_assertion evidence source_evidence_literature NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_provenance.
- NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_assertion SIO_000772 25504470 NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_provenance.
- NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_assertion wasDerivedFrom befree-2016 NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_provenance.
- NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_assertion wasGeneratedBy ECO_0000203 NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_provenance.
- befree-2016 importedOn "2016-02-19" NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_provenance.