@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:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_head { this: np:hasAssertion dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_assertion; np:hasProvenance dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_provenance; np:hasPublicationInfo dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_publicationInfo; a np:Nanopublication . dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_assertion a np:Assertion . dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_provenance a np:Provenance . dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_publicationInfo a np:PublicationInfo . } dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_assertion { miriam-gene:6442 a ncit:C16612 . lld:C2936332 a ncit:C7057 . dgn-gda:DGN9382a669b74991ae6348b364c7269204 sio:SIO_000628 miriam-gene:6442, lld:C2936332; a sio:SIO_001121 . } dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_provenance { dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_assertion dcterms:description "[Defect of SGCA was previously shown to lead to severe childhood autosomal recessive muscular dystrophy (LGMD2D) which result in progressive muscle weakness and can also be associated with hyperlordosis or scoliosis.]. 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:25106685; 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:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_publicationInfo { this: dcterms:created "2016-05-13T12:50:54+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" . }