http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg#head http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg#assertion http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg#provenance http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg#assertion http://rdf.disgenet.org/resource/gda/DGN5260e2b3e10cfd20e5e37b03901dc637 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/338442 http://rdf.disgenet.org/resource/gda/DGN5260e2b3e10cfd20e5e37b03901dc637 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0345407 http://rdf.disgenet.org/resource/gda/DGN5260e2b3e10cfd20e5e37b03901dc637 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg#provenance http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg#assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15327960 http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://purl.org/dc/terms/created 2017-10-17T13:19:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1425703.RAaRT13fTnz9dRU5Z2LDvQRsFddVPy6rQYaJIvktqzScg http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0