Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_provenance.
- NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_assertion description "[Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_provenance.
- NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_assertion evidence source_evidence_curated NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_provenance.
- NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_assertion SIO_000772 10732802 NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_provenance.
- NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_assertion wasDerivedFrom uniprot-2016 NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_provenance.
- NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_assertion wasGeneratedBy ECO_0000218 NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP703.RAXQ6ZYdGIIbMi1XqKRFFNvgjMEPyYztFMx_NOw2nKWUM130_provenance.