Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_provenance.
- NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_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." NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_provenance.
- NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_assertion evidence source_evidence_literature NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_provenance.
- NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_assertion SIO_000772 15327960 NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_provenance.
- NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_assertion wasDerivedFrom befree-20140225 NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_provenance.
- NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_assertion wasGeneratedBy ECO_0000203 NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP853172.RA80R4DJpCP7jdrtgzZejCe0H8zREgrETZTG2_ZDESLJ4130_provenance.