@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:NP574277.RA-xG9mubesXiPXGy47EaI30JHwgZfS3z_lQ6v-nxKzaQ130_head { this: np:hasAssertion dgn-np:NP574277.RA-xG9mubesXiPXGy47EaI30JHwgZfS3z_lQ6v-nxKzaQ130_assertion; np:hasProvenance dgn-np:NP574277.RA-xG9mubesXiPXGy47EaI30JHwgZfS3z_lQ6v-nxKzaQ130_provenance; np:hasPublicationInfo dgn-np:NP574277.RA-xG9mubesXiPXGy47EaI30JHwgZfS3z_lQ6v-nxKzaQ130_publicationInfo; a np:Nanopublication . dgn-np:NP574277.RA-xG9mubesXiPXGy47EaI30JHwgZfS3z_lQ6v-nxKzaQ130_assertion a np:Assertion . dgn-np:NP574277.RA-xG9mubesXiPXGy47EaI30JHwgZfS3z_lQ6v-nxKzaQ130_provenance a np:Provenance . dgn-np:NP574277.RA-xG9mubesXiPXGy47EaI30JHwgZfS3z_lQ6v-nxKzaQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP574277.RA-xG9mubesXiPXGy47EaI30JHwgZfS3z_lQ6v-nxKzaQ130_assertion { miriam-gene:1756 a ncit:C16612 . lld:C0026850 a ncit:C7057 . dgn-gda:DGNee6cfb66c88b972b0443f0c81ee82aab sio:SIO_000628 miriam-gene:1756, lld:C0026850; a sio:SIO_001121 . } dgn-np:NP574277.RA-xG9mubesXiPXGy47EaI30JHwgZfS3z_lQ6v-nxKzaQ130_provenance { dgn-np:NP574277.RA-xG9mubesXiPXGy47EaI30JHwgZfS3z_lQ6v-nxKzaQ130_assertion dcterms:description "[The mutation detection rate is almost as high as 100% and mutations were identified in all patients for whom the diagnosis of DMD and Becker muscular dystrophy (BMD) was clinically suspected and further supported by the detection on Western blot of quantitative and/or qualitative dystrophin protein abnormalities.]. 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:17041906; 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:NP574277.RA-xG9mubesXiPXGy47EaI30JHwgZfS3z_lQ6v-nxKzaQ130_publicationInfo { this: dcterms:created "2016-05-13T12:46:05+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" . }