@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:NP1375205.RAtgMDBZY42coeUc16k2hOlkNwbh_jQXFrZGzQLEE0lOE130_head { this: np:hasAssertion dgn-np:NP1375205.RAtgMDBZY42coeUc16k2hOlkNwbh_jQXFrZGzQLEE0lOE130_assertion; np:hasProvenance dgn-np:NP1375205.RAtgMDBZY42coeUc16k2hOlkNwbh_jQXFrZGzQLEE0lOE130_provenance; np:hasPublicationInfo dgn-np:NP1375205.RAtgMDBZY42coeUc16k2hOlkNwbh_jQXFrZGzQLEE0lOE130_publicationInfo; a np:Nanopublication . dgn-np:NP1375205.RAtgMDBZY42coeUc16k2hOlkNwbh_jQXFrZGzQLEE0lOE130_assertion a np:Assertion . dgn-np:NP1375205.RAtgMDBZY42coeUc16k2hOlkNwbh_jQXFrZGzQLEE0lOE130_provenance a np:Provenance . dgn-np:NP1375205.RAtgMDBZY42coeUc16k2hOlkNwbh_jQXFrZGzQLEE0lOE130_publicationInfo a np:PublicationInfo . } dgn-np:NP1375205.RAtgMDBZY42coeUc16k2hOlkNwbh_jQXFrZGzQLEE0lOE130_assertion { miriam-gene:6443 a ncit:C16612 . lld:C2936331 a ncit:C7057 . dgn-gda:DGN1fcab200229a8c43182c168d1226cc50 sio:SIO_000628 miriam-gene:6443, lld:C2936331; a sio:SIO_001121 . } dgn-np:NP1375205.RAtgMDBZY42coeUc16k2hOlkNwbh_jQXFrZGzQLEE0lOE130_provenance { dgn-np:NP1375205.RAtgMDBZY42coeUc16k2hOlkNwbh_jQXFrZGzQLEE0lOE130_assertion dcterms:description "[Sarcoglycanopathies are a genetically heterogeneous group of autosomal recessive muscular dystrophies in which the primary defect may reside in any of the genes coding for the different partners of the sarcolemmal sarcoglycan (SG) complex: the alpha-SG (LGMD2D at 17q21.2), the beta-SG (LGMD2E at 4q12), the gamma-SG (LGMD2C at 13q12), and the delta-SG (LGMD2F at 5q33).]. 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:9192266; 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:NP1375205.RAtgMDBZY42coeUc16k2hOlkNwbh_jQXFrZGzQLEE0lOE130_publicationInfo { this: dcterms:created "2016-05-13T12:52:09+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" . }