http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_head http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_assertion http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_provenance http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_assertion http://identifiers.org/ncbigene/5290 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/C0276096 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#DGN6730ae6771777340c59102fc559a245b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5290 http://rdf.disgenet.org/gene-disease-association.ttl#DGN6730ae6771777340c59102fc559a245b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0276096 http://rdf.disgenet.org/gene-disease-association.ttl#DGN6730ae6771777340c59102fc559a245b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_provenance http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_assertion http://purl.org/dc/terms/description [Four different forms of isolated MMA have been described: mut MMA associated with defects in the MCM apoenzyme, and phenotypically divided into two subtypes mut- and mut0 MMA, and three different defects involved in the synthesis of the active form of the cofactor adenosylcobalamin, termed cbl MMA, and classified into three different complementation groups cblA, cblB, and cblH associated with defects in the MMAA and MMAB genes and with an unidentified protein, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_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#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15781192 http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_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#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_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#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://purl.org/dc/terms/created 2014-10-02T12:36:50+02:00 http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP484619.RAgeV6jE78xC2E1w8QhajP64al8361FwizQ_ocE-Iu62U 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