Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_provenance.
- NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_assertion wasGeneratedBy ECO_0000218 NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_provenance.
- NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_assertion wasDerivedFrom uniprot-20130724 NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_provenance.
- NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_assertion SIO_000772 12649809 NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_provenance.
- NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_assertion evidence source_evidence_curated NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_provenance.
- NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_assertion description "[We have studied a JAG1 missense mutation (JAG1-G274D) that was previously identified in 13 individuals from an extended family with cardiac defects of the type seen in patients with AGS (e.g., peripheral pulmonic stenosis and tetralogy of Fallot) in the absence of liver dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_provenance.