Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_provenance.
- NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_assertion description "[In the current study, we report the identification of a novel disease-causing mutation in the ASAH1 gene that results in Farber disease in an Indian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_provenance.
- NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_assertion evidence source_evidence_curated NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_provenance.
- NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_assertion SIO_000772 16951918 NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_provenance.
- NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_assertion wasDerivedFrom uniprot-2016 NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_provenance.
- NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_assertion wasGeneratedBy ECO_0000218 NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4685.RAW42hzx22P7xlo5yf6iWPpVz158J6xdLLStWkB1YL6PM130_provenance.