Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_provenance.
- NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_assertion wasGeneratedBy ECO_0000218 NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_provenance.
- NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_assertion wasDerivedFrom uniprot-2016 NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_provenance.
- NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_assertion SIO_000772 10545598 NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_provenance.
- NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_assertion evidence source_evidence_curated NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_provenance.
- NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_assertion description "[We report the first point mutation in desmin cosegregating with an autosomal dominant form of desmin-related myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_provenance.