Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_assertion> ?p ?o ?g. }
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- NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_assertion type Assertion NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_head.
- 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.