Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_provenance.
- NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_assertion description "[Although haploinsufficiency of the T-box transcription factor gene TBX1 is thought to cause the phenotype, to date, only four different point mutations in TBX1 have been reported in association with six of the major features of 22q11.2 deletion syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_provenance.
- NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_assertion evidence source_evidence_literature NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_provenance.
- NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_assertion SIO_000772 17273972 NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_provenance.
- NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_assertion wasDerivedFrom befree-2016 NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_provenance.
- NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_assertion wasGeneratedBy ECO_0000203 NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_provenance.
- befree-2016 importedOn "2016-02-19" NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_provenance.