Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_provenance.
- NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_assertion description "[By whole-exome sequencing of a multiplex kindred with ICA, we identify a heterozygous missense mutation (P236H) in NKX2-5 showing reduced transactivation in vitro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_provenance.
- NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_assertion evidence source_evidence_curated NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_provenance.
- NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_assertion SIO_000772 22560297 NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_provenance.
- NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_assertion wasDerivedFrom uniprot-2016 NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_provenance.
- NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_assertion wasGeneratedBy ECO_0000218 NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_provenance.