Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance.
- NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_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." NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance.
- NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_assertion evidence source_evidence_literature NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance.
- NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_assertion SIO_000772 16380616 NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance.
- NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_assertion wasDerivedFrom befree-20140225 NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance.
- NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_assertion wasGeneratedBy ECO_0000203 NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance.