Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_provenance.
- NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_assertion wasGeneratedBy ECO_0000218 NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_provenance.
- NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_assertion wasDerivedFrom uniprot-20130724 NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_provenance.
- NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_assertion SIO_000772 8188715 NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_provenance.
- NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_assertion evidence source_evidence_curated NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_provenance.
- NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_assertion description "[Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_provenance.