http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c#head http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c#assertion http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c#provenance http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c#assertion http://rdf.disgenet.org/resource/gda/DGN6a8bdda8d08eb721b34b798fb2cfef78 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5251 http://rdf.disgenet.org/resource/gda/DGN6a8bdda8d08eb721b34b798fb2cfef78 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3536983 http://rdf.disgenet.org/resource/gda/DGN6a8bdda8d08eb721b34b798fb2cfef78 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c#provenance http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c#assertion http://purl.org/dc/terms/description [PHEX mutations have been observed in XLH patients, and we have undertaken studies to characterize such mutations in 46 unrelated XLH kindreds and 22 unrelated patients with nonfamilial XLH by single stranded conformational polymorphism and DNA sequence analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c#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/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9768674 http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c#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/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://purl.org/dc/terms/created 2017-10-17T13:15:19+02:00 http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP807544.RA7hA1-0PT2P025OTkDUmA0ericldLTztUoefy3XWes7c 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