@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:NP963591.RAMpKSEe6-lSB_ylSFLTeecBQ9IXu95SuwV6ETb857BPE130_head { this: np:hasAssertion dgn-np:NP963591.RAMpKSEe6-lSB_ylSFLTeecBQ9IXu95SuwV6ETb857BPE130_assertion; np:hasProvenance dgn-np:NP963591.RAMpKSEe6-lSB_ylSFLTeecBQ9IXu95SuwV6ETb857BPE130_provenance; np:hasPublicationInfo dgn-np:NP963591.RAMpKSEe6-lSB_ylSFLTeecBQ9IXu95SuwV6ETb857BPE130_publicationInfo; a np:Nanopublication . dgn-np:NP963591.RAMpKSEe6-lSB_ylSFLTeecBQ9IXu95SuwV6ETb857BPE130_assertion a np:Assertion . dgn-np:NP963591.RAMpKSEe6-lSB_ylSFLTeecBQ9IXu95SuwV6ETb857BPE130_provenance a np:Provenance . dgn-np:NP963591.RAMpKSEe6-lSB_ylSFLTeecBQ9IXu95SuwV6ETb857BPE130_publicationInfo a np:PublicationInfo . } dgn-np:NP963591.RAMpKSEe6-lSB_ylSFLTeecBQ9IXu95SuwV6ETb857BPE130_assertion { miriam-gene:6445 a ncit:C16612 . lld:C0410173 a ncit:C7057 . dgn-gda:DGNca43ab57c08899279548cbbf27f82ed4 sio:SIO_000628 miriam-gene:6445, lld:C0410173; a sio:SIO_001122 . } dgn-np:NP963591.RAMpKSEe6-lSB_ylSFLTeecBQ9IXu95SuwV6ETb857BPE130_provenance { dgn-np:NP963591.RAMpKSEe6-lSB_ylSFLTeecBQ9IXu95SuwV6ETb857BPE130_assertion dcterms:description "[In this study, we hypothesized that functional polymorphisms in genes involved in the mitochondrial apoptotic pathway might modulate the apoptotic capacity underlying the muscle loss and contributing to intrafamilial and interfamilial variable phenotypes in LGMD2C (Limb Girdle Muscular Dystrophy type 2C) patients sharing the same c.521delT mutation in SGCG gene.]. 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:22367371; 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:NP963591.RAMpKSEe6-lSB_ylSFLTeecBQ9IXu95SuwV6ETb857BPE130_publicationInfo { this: dcterms:created "2016-05-13T12:49:01+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" . }