http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_head http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_assertion http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_provenance http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_assertion http://identifiers.org/ncbigene/6573 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0013080 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN50fec914032673d8615e5c48de603528 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6573 http://rdf.disgenet.org/resource/gda/DGN50fec914032673d8615e5c48de603528 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013080 http://rdf.disgenet.org/resource/gda/DGN50fec914032673d8615e5c48de603528 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_provenance http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_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/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16115349 http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://purl.org/dc/terms/created 2016-05-13T12:45:36+02:00 http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP510055.RA_qETN0t9X1MEVEyHFfsHF0E1DyFLzDNyU3FOBFtvKz0 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0