http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg#head http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg#assertion http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg#provenance http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg#assertion http://rdf.disgenet.org/resource/gda/DGN831179825c8407ebae962709f474d51b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4524 http://rdf.disgenet.org/resource/gda/DGN831179825c8407ebae962709f474d51b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0027794 http://rdf.disgenet.org/resource/gda/DGN831179825c8407ebae962709f474d51b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg#provenance http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg#assertion http://purl.org/dc/terms/description [They found that the mother, who also had not supplemented her folic acid intake, had a secondarily altered folate status with an increased homocysteine level, suggesting that the homozygous TT mutation in the MTHFR gene in both mother and her child had contributed to the presentation of DS and a neural tube defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg#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/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16602006 http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg#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/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://purl.org/dc/terms/created 2017-10-17T13:14:46+02:00 http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP719572.RAMR73LZ68BTeDUg9hoQR6d5U6dj7kMNjGSezndKsbnGg 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