@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_head { this: np:hasAssertion dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_assertion; np:hasProvenance dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_provenance; np:hasPublicationInfo dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_publicationInfo; a np:Nanopublication . dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_assertion a np:Assertion . dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_provenance a np:Provenance . dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_publicationInfo a np:PublicationInfo . } dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_assertion { miriam-gene:4524 a ncit:C16612 . lld:C0002871 a ncit:C7057 . dgn-gda:DGNff73216dc1d8d593809fb10cab050da8 sio:SIO_000628 miriam-gene:4524, lld:C0002871; a sio:SIO_001121 . } dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_provenance { dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_assertion dcterms:description "[We report the lack of megaloblastic anaemia in a patient with severe methionine synthase deficiency who is also homozygous for C677T in MTHFR, hypothesize that the MTHFR polymorphism protects the patient against anaemia and speculate that homozygosity for MTHFR C677T could cause the dissociation between haematological and neurological disease seen in some patients with vitamin B12 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:9453374; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_publicationInfo { this: dcterms:created "2014-10-02T12:33:29+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }