http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs#head http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs#assertion http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs#provenance http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs#assertion http://rdf.disgenet.org/resource/gda/DGNe5dd5eccb772ab7f5c600d8735af6cde http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6197 http://rdf.disgenet.org/resource/gda/DGNe5dd5eccb772ab7f5c600d8735af6cde http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2020284 http://rdf.disgenet.org/resource/gda/DGNe5dd5eccb772ab7f5c600d8735af6cde http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs#provenance http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs#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/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs#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/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23022073 http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs#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/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://purl.org/dc/terms/created 2017-10-17T13:16:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP913536.RAqkrNpRxdnftXVnwRtu4xxRw1cD0_vLcY0Yygk6QwHWs 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