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- source_evidence_literature type ECO_0000212 NP838738.RAOkktOR3syCXz_SboUt1kiWUEwDom-mtaqhG-BvqnjSs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP838738.RAOkktOR3syCXz_SboUt1kiWUEwDom-mtaqhG-BvqnjSs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP838738.RAOkktOR3syCXz_SboUt1kiWUEwDom-mtaqhG-BvqnjSs130_provenance.
- NP838738.RAOkktOR3syCXz_SboUt1kiWUEwDom-mtaqhG-BvqnjSs130_assertion description "[Mutations in the lamin A/C gene should be sought in any infant with dystrophic features and normal tissue immunochemical studies; especially in the presence of moderately elevated serum creatine kinase, predominant axial and humeroperoneal weakness, spine rigidity, and joint contractures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP838738.RAOkktOR3syCXz_SboUt1kiWUEwDom-mtaqhG-BvqnjSs130_provenance.
- NP838738.RAOkktOR3syCXz_SboUt1kiWUEwDom-mtaqhG-BvqnjSs130_assertion evidence source_evidence_literature NP838738.RAOkktOR3syCXz_SboUt1kiWUEwDom-mtaqhG-BvqnjSs130_provenance.
- NP838738.RAOkktOR3syCXz_SboUt1kiWUEwDom-mtaqhG-BvqnjSs130_assertion SIO_000772 20837309 NP838738.RAOkktOR3syCXz_SboUt1kiWUEwDom-mtaqhG-BvqnjSs130_provenance.
- NP838738.RAOkktOR3syCXz_SboUt1kiWUEwDom-mtaqhG-BvqnjSs130_assertion wasDerivedFrom befree-2016 NP838738.RAOkktOR3syCXz_SboUt1kiWUEwDom-mtaqhG-BvqnjSs130_provenance.
- NP838738.RAOkktOR3syCXz_SboUt1kiWUEwDom-mtaqhG-BvqnjSs130_assertion wasGeneratedBy ECO_0000203 NP838738.RAOkktOR3syCXz_SboUt1kiWUEwDom-mtaqhG-BvqnjSs130_provenance.
- befree-2016 importedOn "2016-02-19" NP838738.RAOkktOR3syCXz_SboUt1kiWUEwDom-mtaqhG-BvqnjSs130_provenance.