http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA#head http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA#assertion http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA#provenance http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA#assertion http://rdf.disgenet.org/resource/gda/DGNb537e0b966539b82ee0cc60c1c5d4ef9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/189 http://rdf.disgenet.org/resource/gda/DGNb537e0b966539b82ee0cc60c1c5d4ef9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268164 http://rdf.disgenet.org/resource/gda/DGNb537e0b966539b82ee0cc60c1c5d4ef9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA#provenance http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA#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/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA#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/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17460142 http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA#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/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://purl.org/dc/terms/created 2017-10-17T13:10:22+02:00 http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP28549.RAaAyeGnfpHju8o9-7sS-xIjHQH-n-I6pKa3BMwX4KjYA 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