http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_head http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_assertion http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_assertion http://identifiers.org/ncbigene/189 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/C0268164 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#DGN43d95e5289310fc61f415d9741825757 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/189 http://rdf.disgenet.org/gene-disease-association.ttl#DGN43d95e5289310fc61f415d9741825757 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268164 http://rdf.disgenet.org/gene-disease-association.ttl#DGN43d95e5289310fc61f415d9741825757 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_assertion http://purl.org/dc/terms/description [Genetic analysis of 55 unrelated probands with PH1 from the Mayo Clinic Hyperoxaluria Center, to date the largest with availability of complete sequencing across the entire AGXT coding region and documented hepatic AGT deficiency, suggests that a molecular diagnosis (identification of two disease alleles) is feasible in 96% of patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_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#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17460142 http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_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#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_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#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://purl.org/dc/terms/created 2014-10-02T12:37:48+02:00 http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP577804.RAT0-gciYR6XdqRjA6nj2LlrVbwdIByRrRKKsn2Q_7_JM 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