Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_provenance.
- NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_assertion description "[Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_provenance.
- NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_assertion evidence source_evidence_curated NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_provenance.
- NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_assertion SIO_000772 15947997 NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_provenance.
- NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_assertion wasDerivedFrom uniprot-20130724 NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_provenance.
- NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_assertion wasGeneratedBy ECO_0000218 NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP2707.RAKGNoMsLV_oI9yT5fXbK8KeTPMo1wokuhY7VClm33RVY130_provenance.