http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw#head http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw#assertion http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw#provenance http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw#assertion http://rdf.disgenet.org/resource/gda/DGN58069f3f49d9b1d4a9ef20be573c6069 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4552 http://rdf.disgenet.org/resource/gda/DGN58069f3f49d9b1d4a9ef20be573c6069 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0010068 http://rdf.disgenet.org/resource/gda/DGN58069f3f49d9b1d4a9ef20be573c6069 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw#provenance http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw#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/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw#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/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20718043 http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw#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/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://purl.org/dc/terms/created 2017-10-17T13:14:49+02:00 http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP727421.RANBb7SxDyXHKZnFX8DxYM6h44yQSsYzHz1iCg6Y1lJkw 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