Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_provenance.
- NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_assertion description "[Central core disease (CCD), congenital fibre type disproportion (CFTD), and nemaline myopathy (NM) are earlyonset clinically heterogeneous congenital myopathies, characterized by generalized muscle weakness and hypotonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_provenance.
- NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_assertion evidence source_evidence_literature NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_provenance.
- NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_assertion SIO_000772 19206168 NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_provenance.
- NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_assertion wasDerivedFrom befree-20140225 NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_provenance.
- NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_assertion wasGeneratedBy ECO_0000203 NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP556600.RABgnS2Hx7GXTzzHtR7hCGSfiSgG5OtV7GhhFxi3q-1TI130_provenance.