http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_head http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_assertion http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_provenance http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_assertion http://identifiers.org/ncbigene/1184 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/C0020438 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/gene-disease-association.ttl#DGNd42042464a6fa84479aa839fea22ca82 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1184 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd42042464a6fa84479aa839fea22ca82 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020438 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd42042464a6fa84479aa839fea22ca82 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_provenance http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_assertion http://purl.org/dc/terms/description [These results clarified four novel mutations in the CLCN5 genes, and additionally suggested that the loss-of-function mutation of the CLCN5 does not necessarily lead to hypercalciuria and nephrocalcinosis in the early stage of the disease, and that LMWP is an early and essential manifestation of disorders of the CLC-5 chloride channel.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9596078 http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://purl.org/dc/terms/created 2014-10-02T12:37:50+02:00 http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP581667.RAnWV87UYasGQPe3Etxjhavm6xZMgX2MeQjEVfFSscUJw http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0