Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_provenance.
- NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_assertion description "[A novel mutation in the myotilin 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." NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_provenance.
- NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_assertion evidence source_evidence_literature NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_provenance.
- NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_assertion SIO_000772 16380616 NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_provenance.
- NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_assertion wasDerivedFrom lhgdn-20090331 NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_provenance.
- NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_assertion wasGeneratedBy ECO_0000203 NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP145418.RAJ0DEbdGYQRZGvZaCxquXiZeV3Vey_UOfh6jhLiuebjw130_provenance.