http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70#head
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70#assertion
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70#provenance
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70#assertion
http://rdf.disgenet.org/resource/gda/DGN0de6709d8a286e4ad3b41c7701ef738e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6197
http://rdf.disgenet.org/resource/gda/DGN0de6709d8a286e4ad3b41c7701ef738e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0043119
http://rdf.disgenet.org/resource/gda/DGN0de6709d8a286e4ad3b41c7701ef738e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70#provenance
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70#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/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70#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/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/23022073
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70#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/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://purl.org/dc/terms/created
2017-10-17T13:16:00+02:00
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP913637.RAj0-BK4JiCB0Z_wHWiEIdbPJ9WPxMXbp7h3B1iBYpC70
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