Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance.
- NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_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." NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance.
- NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_assertion evidence source_evidence_literature NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance.
- NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_assertion SIO_000772 15314642 NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance.
- NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_assertion wasDerivedFrom befree-2016 NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance.
- NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_assertion wasGeneratedBy ECO_0000203 NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance.
- befree-2016 importedOn "2016-02-19" NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance.