http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8#head http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8#assertion http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8#provenance http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8#assertion http://rdf.disgenet.org/resource/gda/DGN43e152c44d103695e0c5751e59ac3209 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/875 http://rdf.disgenet.org/resource/gda/DGN43e152c44d103695e0c5751e59ac3209 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0010068 http://rdf.disgenet.org/resource/gda/DGN43e152c44d103695e0c5751e59ac3209 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8#provenance http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8#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/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8#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/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20718043 http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8#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/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://purl.org/dc/terms/created 2017-10-17T13:11:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP169091.RASzCzIDXpzy6IZgY2Uh9Ft2gGjVwgXaw7l6pZZucBT_8 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