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- source_evidence_literature type ECO_0000212 NP824739.RA3xI6I0KlbJC7bDz_W5LKb8kCyuFAB9GvZuv2KF7NgMo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP824739.RA3xI6I0KlbJC7bDz_W5LKb8kCyuFAB9GvZuv2KF7NgMo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP824739.RA3xI6I0KlbJC7bDz_W5LKb8kCyuFAB9GvZuv2KF7NgMo130_provenance.
- NP824739.RA3xI6I0KlbJC7bDz_W5LKb8kCyuFAB9GvZuv2KF7NgMo130_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." NP824739.RA3xI6I0KlbJC7bDz_W5LKb8kCyuFAB9GvZuv2KF7NgMo130_provenance.
- NP824739.RA3xI6I0KlbJC7bDz_W5LKb8kCyuFAB9GvZuv2KF7NgMo130_assertion evidence source_evidence_literature NP824739.RA3xI6I0KlbJC7bDz_W5LKb8kCyuFAB9GvZuv2KF7NgMo130_provenance.
- NP824739.RA3xI6I0KlbJC7bDz_W5LKb8kCyuFAB9GvZuv2KF7NgMo130_assertion SIO_000772 16380616 NP824739.RA3xI6I0KlbJC7bDz_W5LKb8kCyuFAB9GvZuv2KF7NgMo130_provenance.
- NP824739.RA3xI6I0KlbJC7bDz_W5LKb8kCyuFAB9GvZuv2KF7NgMo130_assertion wasDerivedFrom befree-20150227 NP824739.RA3xI6I0KlbJC7bDz_W5LKb8kCyuFAB9GvZuv2KF7NgMo130_provenance.
- NP824739.RA3xI6I0KlbJC7bDz_W5LKb8kCyuFAB9GvZuv2KF7NgMo130_assertion wasGeneratedBy ECO_0000203 NP824739.RA3xI6I0KlbJC7bDz_W5LKb8kCyuFAB9GvZuv2KF7NgMo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP824739.RA3xI6I0KlbJC7bDz_W5LKb8kCyuFAB9GvZuv2KF7NgMo130_provenance.