Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance.
- NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_assertion description "[A novel mutation in the TTID gene results in the clinical and pathologic phenotype termed spheroid body myopathy. Mutations in this gene also cause limb-girdle muscular dystrophy 1A and are associated with myofibrillar myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance.
- NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_assertion evidence source_evidence_literature NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance.
- NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_assertion SIO_000772 16380616 NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance.
- NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_assertion wasDerivedFrom befree-2016 NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance.
- NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_assertion wasGeneratedBy ECO_0000203 NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance.
- befree-2016 importedOn "2016-02-19" NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance.