Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_provenance.
- NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_assertion wasGeneratedBy ECO_0000218 NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_provenance.
- NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_assertion wasDerivedFrom ctd_human-20150221 NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_provenance.
- NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_assertion SIO_000772 20711175 NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_provenance.
- NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_assertion evidence source_evidence_curated NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_provenance.
- NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_assertion description "[Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20416.RAXC4sEpXDD4mCuWQ_qw_U_qHPEksyvBoRXh0J-lvx9is130_provenance.