Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance.
- NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_assertion description "[We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance.
- NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_assertion evidence source_evidence_literature NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance.
- NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_assertion SIO_000772 15314642 NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance.
- NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_assertion wasDerivedFrom lhgdn-20090331 NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance.
- NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_assertion wasGeneratedBy ECO_0000203 NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance.