@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:NP895099.RALD8iS6dqrBpt1lWUkTvEfAwTOr-cAaVrQ7GaXKSHfnI130_head { this: np:hasAssertion dgn-np:NP895099.RALD8iS6dqrBpt1lWUkTvEfAwTOr-cAaVrQ7GaXKSHfnI130_assertion; np:hasProvenance dgn-np:NP895099.RALD8iS6dqrBpt1lWUkTvEfAwTOr-cAaVrQ7GaXKSHfnI130_provenance; np:hasPublicationInfo dgn-np:NP895099.RALD8iS6dqrBpt1lWUkTvEfAwTOr-cAaVrQ7GaXKSHfnI130_publicationInfo; a np:Nanopublication . dgn-np:NP895099.RALD8iS6dqrBpt1lWUkTvEfAwTOr-cAaVrQ7GaXKSHfnI130_assertion a np:Assertion . dgn-np:NP895099.RALD8iS6dqrBpt1lWUkTvEfAwTOr-cAaVrQ7GaXKSHfnI130_provenance a np:Provenance . dgn-np:NP895099.RALD8iS6dqrBpt1lWUkTvEfAwTOr-cAaVrQ7GaXKSHfnI130_publicationInfo a np:PublicationInfo . } dgn-np:NP895099.RALD8iS6dqrBpt1lWUkTvEfAwTOr-cAaVrQ7GaXKSHfnI130_assertion { miriam-gene:29954 a ncit:C16612 . lld:C0026850 a ncit:C7057 . dgn-gda:DGN98d70ffe76cecfc055aaa6c0540fe26f sio:SIO_000628 miriam-gene:29954, lld:C0026850; a sio:SIO_001121 . } dgn-np:NP895099.RALD8iS6dqrBpt1lWUkTvEfAwTOr-cAaVrQ7GaXKSHfnI130_provenance { dgn-np:NP895099.RALD8iS6dqrBpt1lWUkTvEfAwTOr-cAaVrQ7GaXKSHfnI130_assertion dcterms:description "[To assess the range and severity of brain involvement, as assessed by magnetic resonance imaging, in 27 patients with mutations in POMT1 (4), POMT2 (9), POMGnT1 (7), Fukutin (4), or LARGE (3), responsible for muscular dystrophies with abnormal glycosylation of dystroglycan (dystroglycanopathies).]. 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:19067344; 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:NP895099.RALD8iS6dqrBpt1lWUkTvEfAwTOr-cAaVrQ7GaXKSHfnI130_publicationInfo { this: dcterms:created "2015-08-25T14:46:46+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" . }