Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_provenance.
- NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_assertion description "[In families with recessively inherited deafness, DFNB37, our sequence analyses of MYO6 reveal a frameshift mutation (36-37insT), a nonsense mutation (R1166X), and a missense mutation (E216V).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_provenance.
- NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_assertion evidence source_evidence_literature NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_provenance.
- NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_assertion SIO_000772 12687499 NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_provenance.
- NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_assertion wasDerivedFrom befree-20140225 NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_provenance.
- NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_assertion wasGeneratedBy ECO_0000203 NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP894180.RAmZyIMCsb87dfbb62sPuTn3pL4ldDi6tTM0Kmzs8gNT8130_provenance.