Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_provenance.
- NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_assertion description "[The disease marble brain syndrome (MBS), known also as carbonic anhydrase II deficiency syndrome (CADS), can manifest in carriers of point mutations in the human carbonic anhydrase II (HCA II) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_provenance.
- NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_assertion evidence source_evidence_literature NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_provenance.
- NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_assertion SIO_000772 15327960 NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_provenance.
- NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_assertion wasDerivedFrom befree-20140225 NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_provenance.
- NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_assertion wasGeneratedBy ECO_0000203 NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_provenance.