Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_provenance.
- NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_assertion wasGeneratedBy ECO_0000218 NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_provenance.
- NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_assertion wasDerivedFrom uniprot-20130724 NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_provenance.
- NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_assertion SIO_000772 10401004 NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_provenance.
- NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_assertion evidence source_evidence_curated NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_provenance.
- NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_assertion description "[Here we report the first missense mutation which causes mild Menkes disease, a mutation in a successfully copper-treated classical Menkes patient and the effect of each mutation on the localization of MNK within the cell.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP595.RANz1d1TvXCpe1fSfmTaFCUlnxTjwF1jfv-_GRgcDt2pk130_provenance.