http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g#head http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g#assertion http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g#provenance http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g#assertion http://rdf.disgenet.org/resource/gda/DGN629f37398b2d979f69bb4f52ac213fee http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/760 http://rdf.disgenet.org/resource/gda/DGN629f37398b2d979f69bb4f52ac213fee http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0005944 http://rdf.disgenet.org/resource/gda/DGN629f37398b2d979f69bb4f52ac213fee http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g#provenance http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g#assertion http://purl.org/dc/terms/description [We also summarize the clinical findings in these families, propose mechanisms by which a deficiency of carbonic anhydrase II could produce this metabolic disorder of bone, kidney, and brain, and discuss the clinical evidence for genetic heterogeneity in patients from different kindreds with this inborn error of metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g#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/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/3925334 http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g#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/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://purl.org/dc/terms/created 2017-10-17T13:11:09+02:00 http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP151010.RAbUMNoFFzK8IX0R2ANd23_F2bBYIJ7MKXJOKpG45gn6g 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