http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_head http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_assertion http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_provenance http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_assertion http://identifiers.org/ncbigene/1280 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/C0265253 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/DGN7568aaec42bfa78f34adc6b1788c621f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1280 http://rdf.disgenet.org/resource/gda/DGN7568aaec42bfa78f34adc6b1788c621f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265253 http://rdf.disgenet.org/resource/gda/DGN7568aaec42bfa78f34adc6b1788c621f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_provenance http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_assertion http://purl.org/dc/terms/description [In this study, we evaluated the utility of CHIPS technology for genetic diagnosis in clinical practice by applying this system to screening for the COL2A1, WRN and RPS6KA3 mutations in newly diagnosed patients with Stickler syndrome (autosomal dominant inheritance), Werner syndrome (autosomal recessive inheritance) and Coffin-Lowry syndrome (X-linked inheritance), respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_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/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23022073 http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_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/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://purl.org/dc/terms/created 2016-05-13T12:49:26+02:00 http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1016417.RAxqX36P32OVrSsZ--aHrJL6Rdh3SriBmyor_I3V_PkiI 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