http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk#head http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk#assertion http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk#provenance http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk#assertion http://rdf.disgenet.org/resource/gda/DGN6092dd28360f33a5cf20f82521758ffe http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4548 http://rdf.disgenet.org/resource/gda/DGN6092dd28360f33a5cf20f82521758ffe http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013080 http://rdf.disgenet.org/resource/gda/DGN6092dd28360f33a5cf20f82521758ffe http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk#provenance http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk#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/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk#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/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20718043 http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/GAD http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk#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/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://purl.org/dc/terms/created 2017-10-17T13:14:49+02:00 http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP726815.RAxBzOcT8cDB7dZekX8EDY5uLZec9rQEU6d_ymBKBAzFk 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