http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_head http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_assertion http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_provenance http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_assertion http://identifiers.org/ncbigene/113235 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/C0268609 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/gene-disease-association.ttl#DGNdbed45080f799ec8d343c0a33af6e1b5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/113235 http://rdf.disgenet.org/gene-disease-association.ttl#DGNdbed45080f799ec8d343c0a33af6e1b5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268609 http://rdf.disgenet.org/gene-disease-association.ttl#DGNdbed45080f799ec8d343c0a33af6e1b5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_provenance http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_assertion http://purl.org/dc/terms/description [Five inborn errors affecting folate transport and metabolism have been well studied: hereditary folate malabsorption, caused by mutations in the gene encoding the proton-coupled folate transporter (SLC46A1); glutamate formiminotransferase deficiency, caused by mutations in the FTCD gene; methylenetetrahydrofolate reductase deficiency, caused by mutations in the MTHFR gene; and functional methionine synthase deficiency, either as the result of mutations affecting methionine synthase itself (cblG, caused by mutations in the MTR gene) or affecting the accessory protein methionine synthase reductase (cblE, caused by mutations in the MTRR gene).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22108709 http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://purl.org/dc/terms/created 2014-10-02T12:38:47+02:00 http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP674987.RAkmj8KLZCYE4VIlWoOu1FHsWGF--zUYBVzoJlb7UUAks http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0