@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:NP221472.RAdAygojaII7-xU3Juw4n74vfW46hu0hUTks9aUqvfo6w130_head { this: np:hasAssertion dgn-np:NP221472.RAdAygojaII7-xU3Juw4n74vfW46hu0hUTks9aUqvfo6w130_assertion; np:hasProvenance dgn-np:NP221472.RAdAygojaII7-xU3Juw4n74vfW46hu0hUTks9aUqvfo6w130_provenance; np:hasPublicationInfo dgn-np:NP221472.RAdAygojaII7-xU3Juw4n74vfW46hu0hUTks9aUqvfo6w130_publicationInfo; a np:Nanopublication . dgn-np:NP221472.RAdAygojaII7-xU3Juw4n74vfW46hu0hUTks9aUqvfo6w130_assertion a np:Assertion . dgn-np:NP221472.RAdAygojaII7-xU3Juw4n74vfW46hu0hUTks9aUqvfo6w130_provenance a np:Provenance . dgn-np:NP221472.RAdAygojaII7-xU3Juw4n74vfW46hu0hUTks9aUqvfo6w130_publicationInfo a np:PublicationInfo . } dgn-np:NP221472.RAdAygojaII7-xU3Juw4n74vfW46hu0hUTks9aUqvfo6w130_assertion { miriam-gene:58 a ncit:C16612 . lld:C3711389 a ncit:C7057 . dgn-gda:DGN2fccfd98c45bb52ba3e045e2f91e3924 sio:SIO_000628 miriam-gene:58, lld:C3711389; a sio:SIO_001122 . } dgn-np:NP221472.RAdAygojaII7-xU3Juw4n74vfW46hu0hUTks9aUqvfo6w130_provenance { dgn-np:NP221472.RAdAygojaII7-xU3Juw4n74vfW46hu0hUTks9aUqvfo6w130_assertion dcterms:description "[Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess of thin myofilaments' (actin myopathy) and nemaline myopathy.]. 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:10508519; 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:NP221472.RAdAygojaII7-xU3Juw4n74vfW46hu0hUTks9aUqvfo6w130_publicationInfo { this: dcterms:created "2015-08-25T14:39:46+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" . }