@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:NP479488.RAww5-yTBAppALTWGs_RZQaIEKDWTgT63L8lUGJEIa0OI130_head { this: np:hasAssertion dgn-np:NP479488.RAww5-yTBAppALTWGs_RZQaIEKDWTgT63L8lUGJEIa0OI130_assertion; np:hasProvenance dgn-np:NP479488.RAww5-yTBAppALTWGs_RZQaIEKDWTgT63L8lUGJEIa0OI130_provenance; np:hasPublicationInfo dgn-np:NP479488.RAww5-yTBAppALTWGs_RZQaIEKDWTgT63L8lUGJEIa0OI130_publicationInfo; a np:Nanopublication . dgn-np:NP479488.RAww5-yTBAppALTWGs_RZQaIEKDWTgT63L8lUGJEIa0OI130_assertion a np:Assertion . dgn-np:NP479488.RAww5-yTBAppALTWGs_RZQaIEKDWTgT63L8lUGJEIa0OI130_provenance a np:Provenance . dgn-np:NP479488.RAww5-yTBAppALTWGs_RZQaIEKDWTgT63L8lUGJEIa0OI130_publicationInfo a np:PublicationInfo . } dgn-np:NP479488.RAww5-yTBAppALTWGs_RZQaIEKDWTgT63L8lUGJEIa0OI130_assertion { miriam-gene:1311 a ncit:C16612 . lld:C0410538 a ncit:C7057 . dgn-gda:DGN1b7e1530429428600e94d4503c34ba67 sio:SIO_000628 miriam-gene:1311, lld:C0410538; a sio:SIO_001121 . } dgn-np:NP479488.RAww5-yTBAppALTWGs_RZQaIEKDWTgT63L8lUGJEIa0OI130_provenance { dgn-np:NP479488.RAww5-yTBAppALTWGs_RZQaIEKDWTgT63L8lUGJEIa0OI130_assertion dcterms:description "[Recent studies demonstrate that calcium-binding and calcium induced protein folding differ between wild type and mutant COMP proteins and abnormal processing of the mutant COMP protein causes the characteristic large lamellar appearing rough endoplasimic reticulum (rER) cisternae phenotype observed in PSACH and EDMI growth plate chondrocytes.]. 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:15694129; 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:NP479488.RAww5-yTBAppALTWGs_RZQaIEKDWTgT63L8lUGJEIa0OI130_publicationInfo { this: dcterms:created "2016-05-13T12:45:22+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" . }