Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_provenance.
- NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_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." NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_provenance.
- NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_assertion evidence source_evidence_literature NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_provenance.
- NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_assertion SIO_000772 20837309 NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_provenance.
- NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_assertion wasDerivedFrom befree-20140225 NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_provenance.
- NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_assertion wasGeneratedBy ECO_0000203 NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP642170.RAG4DrrdG9x9sffCahczSj-xkxfe7H4gicFdtKf3-bUp8130_provenance.