@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:NP695989.RADLRU_uns9yaCNW3muHrkRnCVN_jWADRFunHR_eHGNfk130_head { this: np:hasAssertion dgn-np:NP695989.RADLRU_uns9yaCNW3muHrkRnCVN_jWADRFunHR_eHGNfk130_assertion; np:hasProvenance dgn-np:NP695989.RADLRU_uns9yaCNW3muHrkRnCVN_jWADRFunHR_eHGNfk130_provenance; np:hasPublicationInfo dgn-np:NP695989.RADLRU_uns9yaCNW3muHrkRnCVN_jWADRFunHR_eHGNfk130_publicationInfo; a np:Nanopublication . dgn-np:NP695989.RADLRU_uns9yaCNW3muHrkRnCVN_jWADRFunHR_eHGNfk130_assertion a np:Assertion . dgn-np:NP695989.RADLRU_uns9yaCNW3muHrkRnCVN_jWADRFunHR_eHGNfk130_provenance a np:Provenance . dgn-np:NP695989.RADLRU_uns9yaCNW3muHrkRnCVN_jWADRFunHR_eHGNfk130_publicationInfo a np:PublicationInfo . } dgn-np:NP695989.RADLRU_uns9yaCNW3muHrkRnCVN_jWADRFunHR_eHGNfk130_assertion { miriam-gene:6513 a ncit:C16612 . lld:C1847501 a ncit:C7057 . dgn-gda:DGN6ef54beef930a3edb76c80891abaabd6 sio:SIO_000628 miriam-gene:6513, lld:C1847501; a sio:SIO_001122 . } dgn-np:NP695989.RADLRU_uns9yaCNW3muHrkRnCVN_jWADRFunHR_eHGNfk130_provenance { dgn-np:NP695989.RADLRU_uns9yaCNW3muHrkRnCVN_jWADRFunHR_eHGNfk130_assertion dcterms:description "[The corresponding mutations in GLUT1 (R153C and R333W) are known to cause GLUT1 deficiency syndrome because arginine residues in this motif are reportedly important as the determinants of the membrane topology of human GLUT1.]. 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:22132964; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP695989.RADLRU_uns9yaCNW3muHrkRnCVN_jWADRFunHR_eHGNfk130_publicationInfo { this: dcterms:created "2015-08-25T14:44:39+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }