Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_assertion> ?p ?o ?g. }
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- NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_assertion type Assertion NP7076.RAuwbRBhGWaylfDGggKGVMCPGcKdCvbRPur8_nXqH5dDo130_head.
- 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.