Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_provenance.
- NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_assertion description "[A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22 (0)) leading to the activation of a cryptic splice site in intron 4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_provenance.
- NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_assertion evidence source_evidence_literature NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_provenance.
- NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_assertion SIO_000772 12073015 NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_provenance.
- NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_assertion wasDerivedFrom lhgdn-20090331 NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_provenance.
- NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_assertion wasGeneratedBy ECO_0000203 NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP131050.RAR-U3lRNZ3-NcjkGfrth5ghA5u7dkpvr1iGSh-JShALs130_provenance.