@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:NP1141502.RAgaj-tVPGCHCIU6UPfieqLM7DDJLx0633_jaSEKKpJ0M130_head { this: np:hasAssertion dgn-np:NP1141502.RAgaj-tVPGCHCIU6UPfieqLM7DDJLx0633_jaSEKKpJ0M130_assertion; np:hasProvenance dgn-np:NP1141502.RAgaj-tVPGCHCIU6UPfieqLM7DDJLx0633_jaSEKKpJ0M130_provenance; np:hasPublicationInfo dgn-np:NP1141502.RAgaj-tVPGCHCIU6UPfieqLM7DDJLx0633_jaSEKKpJ0M130_publicationInfo; a np:Nanopublication . dgn-np:NP1141502.RAgaj-tVPGCHCIU6UPfieqLM7DDJLx0633_jaSEKKpJ0M130_assertion a np:Assertion . dgn-np:NP1141502.RAgaj-tVPGCHCIU6UPfieqLM7DDJLx0633_jaSEKKpJ0M130_provenance a np:Provenance . dgn-np:NP1141502.RAgaj-tVPGCHCIU6UPfieqLM7DDJLx0633_jaSEKKpJ0M130_publicationInfo a np:PublicationInfo . } dgn-np:NP1141502.RAgaj-tVPGCHCIU6UPfieqLM7DDJLx0633_jaSEKKpJ0M130_assertion { miriam-gene:2717 a ncit:C16612 . lld:C0002986 a ncit:C7057 . dgn-gda:DGN9638718aeac3943409084bfab6acbbc2 sio:SIO_000628 miriam-gene:2717, lld:C0002986; a sio:SIO_001121 . } dgn-np:NP1141502.RAgaj-tVPGCHCIU6UPfieqLM7DDJLx0633_jaSEKKpJ0M130_provenance { dgn-np:NP1141502.RAgaj-tVPGCHCIU6UPfieqLM7DDJLx0633_jaSEKKpJ0M130_assertion dcterms:description "[To elucidate the molecular basis of Fabry disease from the viewpoint of structural biology, we comprehensively examined the effects of different substitutions at the same residue in the amino acid sequence of GLA on the structural change in the enzyme molecule and the clinical phenotype by calculating the number of atoms affected and the root-mean-square-distance value, and by coloring of the atoms influenced by the amino acid replacements.]. 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:24386359; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1141502.RAgaj-tVPGCHCIU6UPfieqLM7DDJLx0633_jaSEKKpJ0M130_publicationInfo { this: dcterms:created "2016-05-13T12:50:23+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }