@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:NP439051.RAO-2rS215Pwf87plVWcm9ORmWkVBZvhUynndKIn34tqg130_head { this: np:hasAssertion dgn-np:NP439051.RAO-2rS215Pwf87plVWcm9ORmWkVBZvhUynndKIn34tqg130_assertion; np:hasProvenance dgn-np:NP439051.RAO-2rS215Pwf87plVWcm9ORmWkVBZvhUynndKIn34tqg130_provenance; np:hasPublicationInfo dgn-np:NP439051.RAO-2rS215Pwf87plVWcm9ORmWkVBZvhUynndKIn34tqg130_publicationInfo; a np:Nanopublication . dgn-np:NP439051.RAO-2rS215Pwf87plVWcm9ORmWkVBZvhUynndKIn34tqg130_assertion a np:Assertion . dgn-np:NP439051.RAO-2rS215Pwf87plVWcm9ORmWkVBZvhUynndKIn34tqg130_provenance a np:Provenance . dgn-np:NP439051.RAO-2rS215Pwf87plVWcm9ORmWkVBZvhUynndKIn34tqg130_publicationInfo a np:PublicationInfo . } dgn-np:NP439051.RAO-2rS215Pwf87plVWcm9ORmWkVBZvhUynndKIn34tqg130_assertion { miriam-gene:1674 a ncit:C16612 . lld:C0026848 a ncit:C7057 . dgn-gda:DGNd792a84be34b15ee6c841caedaa8378f sio:SIO_000628 miriam-gene:1674, lld:C0026848; a sio:SIO_001121 . } dgn-np:NP439051.RAO-2rS215Pwf87plVWcm9ORmWkVBZvhUynndKIn34tqg130_provenance { dgn-np:NP439051.RAO-2rS215Pwf87plVWcm9ORmWkVBZvhUynndKIn34tqg130_assertion dcterms:description "[Thus, this congenital myopathy can be caused by a new type of ACTA1 gene mutation, a new non-ACTA1 gene mutation, or no mutation at all, designating it as an actin-related myopathy, perhaps a new type of congenital myopathy and a new member of protein aggregate myopathies marked by aggregation of proteins within muscle fibers, among them desminopathies, alpha-beta crystallinopathies, other desmin-related myopathies (also termed myofibrillar myopathies), actinopathies and, now, actin-related myopathies.]. 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:15072110; 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:NP439051.RAO-2rS215Pwf87plVWcm9ORmWkVBZvhUynndKIn34tqg130_publicationInfo { this: dcterms:created "2016-05-13T12:45:04+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" . }