Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_provenance.
- NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_assertion wasGeneratedBy ECO_0000218 NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_provenance.
- NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_assertion wasDerivedFrom uniprot-20150221 NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_provenance.
- NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_assertion SIO_000772 24253444 NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_provenance.
- NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_assertion evidence source_evidence_curated NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_provenance.
- NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_assertion description "[Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP134.RARO6Y8Kua_jVOK9-4jV9ZrbiXpfAM93XbY7G1byHAoJk130_provenance.