Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_provenance.
- NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_assertion description "[First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_provenance.
- NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_assertion evidence source_evidence_curated NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_provenance.
- NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_assertion SIO_000772 11102975 NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_provenance.
- NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_assertion wasDerivedFrom uniprot-20130724 NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_provenance.
- NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_assertion wasGeneratedBy ECO_0000218 NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP379.RAly49hklVXBHxKgPo0eHH2oTGiny4SD1RgqYmARXs7PM130_provenance.