http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw#head http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw#assertion http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw#provenance http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw#assertion http://rdf.disgenet.org/resource/gda/DGN284dc99065d4114ca3c3f84b929f0986 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/55835 http://rdf.disgenet.org/resource/gda/DGN284dc99065d4114ca3c3f84b929f0986 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013336 http://rdf.disgenet.org/resource/gda/DGN284dc99065d4114ca3c3f84b929f0986 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw#provenance http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw#assertion http://purl.org/dc/terms/description [CONCLUSION This report establishes for the first time that mutation of CENPJ can lead to Seckel syndrome and calls for further investigation of the role played by other microcephaly related genes in the pathogenesis of PD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw#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/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20522431 http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw#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/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://purl.org/dc/terms/created 2017-10-17T13:18:41+02:00 http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1338795.RAh9nb9Itg6eQrUzz02CduscA_mX0cmaOrUb-6GpXj2Cw 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