http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_head http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_assertion http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_provenance http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_assertion http://identifiers.org/ncbigene/875 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/DGN62c3b1de06e4ecbff5cfff56bf9ade36 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/875 http://rdf.disgenet.org/resource/gda/DGN62c3b1de06e4ecbff5cfff56bf9ade36 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013080 http://rdf.disgenet.org/resource/gda/DGN62c3b1de06e4ecbff5cfff56bf9ade36 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_provenance http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_assertion http://purl.org/dc/terms/description [In a group of 121 case families (mother, father, and proband with DS and AVSD) and 122 control families (mother, father, and proband with DS and no CHD), tag SNPs were genotyped in and around five folate pathway genes: 5,10-methylenetetrahyrdofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), cystathionine beta-synthase (CBS), and the reduced folate carrier (SLC19A1, RFC1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20718043 http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/gad-20150221 http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/gad-20150221 http://purl.org/pav/importedOn 2015-02-21 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://purl.org/dc/terms/created 2015-08-25T14:38:46+02:00 http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP117978.RAHZWcrdVNsqqZu9_Vz-Nq_RcbTWrPfOFiwyV42QPn1No http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0