Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_assertion> ?p ?o ?g. }
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- NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_assertion type Assertion NP453.RACXER2D2dPIt1fhczjo_yPa2WYxX49n0dIu7LtU6v86Y130_head.
- 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.