@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:NP1111803.RAr29U8udFAU3PkBDTrfHoSBOWhwieGZWfE2hui1NAo58130_head { this: np:hasAssertion dgn-np:NP1111803.RAr29U8udFAU3PkBDTrfHoSBOWhwieGZWfE2hui1NAo58130_assertion; np:hasProvenance dgn-np:NP1111803.RAr29U8udFAU3PkBDTrfHoSBOWhwieGZWfE2hui1NAo58130_provenance; np:hasPublicationInfo dgn-np:NP1111803.RAr29U8udFAU3PkBDTrfHoSBOWhwieGZWfE2hui1NAo58130_publicationInfo; a np:Nanopublication . dgn-np:NP1111803.RAr29U8udFAU3PkBDTrfHoSBOWhwieGZWfE2hui1NAo58130_assertion a np:Assertion . dgn-np:NP1111803.RAr29U8udFAU3PkBDTrfHoSBOWhwieGZWfE2hui1NAo58130_provenance a np:Provenance . dgn-np:NP1111803.RAr29U8udFAU3PkBDTrfHoSBOWhwieGZWfE2hui1NAo58130_publicationInfo a np:PublicationInfo . } dgn-np:NP1111803.RAr29U8udFAU3PkBDTrfHoSBOWhwieGZWfE2hui1NAo58130_assertion { miriam-gene:4703 a ncit:C16612 . lld:C0206157 a ncit:C7057 . dgn-gda:DGNaaf3b0f52cc7e89a6ae3eb7398ea9f5e sio:SIO_000628 miriam-gene:4703, lld:C0206157; a sio:SIO_001121 . } dgn-np:NP1111803.RAr29U8udFAU3PkBDTrfHoSBOWhwieGZWfE2hui1NAo58130_provenance { dgn-np:NP1111803.RAr29U8udFAU3PkBDTrfHoSBOWhwieGZWfE2hui1NAo58130_assertion dcterms:description "[To provide further insights into the functional significance of the nebulin SH3 domain in the Z-disk and to understand the mechanisms by which truncations of nebulin lead to NM, we took two approaches: (1) an affinity-based proteomic screening to identify novel interaction partners of the nebulin SH3 domain; and (2) generation and characterization of a novel knockin mouse model with a premature stop codon in the nebulin gene, eliminating its C-terminal SH3 domain (NebΔSH3 mouse).]. 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:24046450; 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:NP1111803.RAr29U8udFAU3PkBDTrfHoSBOWhwieGZWfE2hui1NAo58130_publicationInfo { this: dcterms:created "2016-05-13T12:50:10+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" . }