Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_provenance.
- NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_assertion description "[Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is associated with de novo hemizygous 22q11.2 deletions and is characterized by malformations attributed to abnormal development of the pharyngeal arches and pouches.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_provenance.
- NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_assertion evidence source_evidence_curated NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_provenance.
- NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_assertion SIO_000772 15190012 NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_provenance.
- NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_assertion wasDerivedFrom ctd_human-20130708 NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_provenance.
- NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_assertion wasGeneratedBy ECO_0000218 NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP31364.RARs1dkZafOf3oaaBG3D34jI-aWCOuNu3PrLHkRrrObqc130_provenance.