http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_head
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_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/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_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/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/3925334
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://purl.org/dc/terms/created
2016-05-13T12:51:37+02:00
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1304157.RA3-2Itoq6T4azkeJcp-zp_5RvrjOnfYgRAcD1tNXY8VA
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0