http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_head
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_assertion
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_provenance
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_assertion
http://identifiers.org/ncbigene/760
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612
http://linkedlifedata.com/resource/umls/id/C0025521
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057
http://rdf.disgenet.org/resource/gda/DGN713ab2f35420cbfeaf1b96acdc25c0f0
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/760
http://rdf.disgenet.org/resource/gda/DGN713ab2f35420cbfeaf1b96acdc25c0f0
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0025521
http://rdf.disgenet.org/resource/gda/DGN713ab2f35420cbfeaf1b96acdc25c0f0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_provenance
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_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/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/3925334
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://purl.org/dc/terms/created
2015-08-25T14:40:17+02:00
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP276464.RAQIeTJsHUaypHfsSZ6NtjAM3sEehaGrQ5rFk7ss0vNGQ
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0