Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_provenance.
- NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_assertion description "[A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_provenance.
- NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_assertion evidence source_evidence_curated NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_provenance.
- NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_assertion SIO_000772 25714420 NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_provenance.
- NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_assertion wasDerivedFrom uniprot-2016 NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_provenance.
- NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_assertion wasGeneratedBy ECO_0000218 NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8150.RA_doBCM3Y3MjfucK8D8LsHOC4kRulIVbnByKUqo2moQ8130_provenance.