Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_provenance.
- NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_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." NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_provenance.
- NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_assertion evidence source_evidence_literature NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_provenance.
- NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_assertion SIO_000772 15327960 NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_provenance.
- NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_assertion wasDerivedFrom befree-20140225 NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_provenance.
- NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_assertion wasGeneratedBy ECO_0000203 NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_provenance.