http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_head http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_assertion http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_assertion http://identifiers.org/ncbigene/4552 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/C0019880 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#DGN60cee9a808879ab0a0b8ca3302d41bcb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4552 http://rdf.disgenet.org/gene-disease-association.ttl#DGN60cee9a808879ab0a0b8ca3302d41bcb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0019880 http://rdf.disgenet.org/gene-disease-association.ttl#DGN60cee9a808879ab0a0b8ca3302d41bcb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_assertion http://purl.org/dc/terms/description [Our study expands the knowledge of the phenotypic and genotypic variability of the cblE type of homocystinuria and supports the concept that this disorder is 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#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_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#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12555939 http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_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#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_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#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://purl.org/dc/terms/created 2014-10-02T12:35:23+02:00 http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU 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