Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance.
- NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_assertion description "[A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance.
- NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_assertion evidence source_evidence_curated NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance.
- NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_assertion SIO_000772 10502832 NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance.
- NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_assertion wasDerivedFrom uniprot-2016 NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance.
- NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_assertion wasGeneratedBy ECO_0000218 NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance.