http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E#head
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E#assertion
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E#provenance
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E#assertion
http://rdf.disgenet.org/resource/gda/DGNdba8b3f83778f07307fc29746c0ea165
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6573
http://rdf.disgenet.org/resource/gda/DGNdba8b3f83778f07307fc29746c0ea165
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0013080
http://rdf.disgenet.org/resource/gda/DGNdba8b3f83778f07307fc29746c0ea165
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E#provenance
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E#assertion
http://purl.org/dc/terms/description
[The purpose of the present study was to analyse these findings among the French population and to investigate whether common polymorphisms in genes of the folate and homocysteine pathway, including the MTHFR 677C > T, MTHFR 1298A > C, the methionine synthase (MTR) 2756A > G, the cystathionine beta-synthase (CBS) 844Ins68 and the reduced folate carrier (RFC-1) 80G > A polymorphisms, contribute to the risk of trisomy 21.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E#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/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/16115349
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/GAD
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/GAD
http://purl.org/pav/importedOn
2017-02-21
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/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://purl.org/dc/terms/created
2017-10-17T13:16:17+02:00
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP957820.RAqCrJhZDz-gq13gINULTwlWS6dSHRQwNdhqGVMSMhS-E
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