http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs#head http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs#assertion http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs#provenance http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs#assertion http://rdf.disgenet.org/resource/gda/DGNcf6ed11d5d71f40e8ad54e8a4cb2c55d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2114 http://rdf.disgenet.org/resource/gda/DGNcf6ed11d5d71f40e8ad54e8a4cb2c55d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1297882 http://rdf.disgenet.org/resource/gda/DGNcf6ed11d5d71f40e8ad54e8a4cb2c55d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs#provenance http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs#assertion http://purl.org/dc/terms/description [These patients belong to two groups of Down syndrome patients characterized by different partial trisomies 21: (i) duplication of the long arm, proximal to 21q22.2, and (ii) duplication of the end of the chromosome, distal to 21q22.2 We assessed the copy number of five chromosome 21 sequences (SOD1, D21S17, D21S55, ETS2, and D21S15) and found that D21S55 was duplicated in both cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs#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/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/2527368 http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs#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/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://purl.org/dc/terms/created 2017-10-17T13:12:32+02:00 http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP369437.RA2rXoZamO5PIAz_afsDEadrlEMmUFVemH1BMjU9wZGFs 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