@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:NP461895.RAGg_lOqKyPoUY9uWwhfXU0fDi_XHd02yk2_yDnd1817g130_head { this: np:hasAssertion dgn-np:NP461895.RAGg_lOqKyPoUY9uWwhfXU0fDi_XHd02yk2_yDnd1817g130_assertion; np:hasProvenance dgn-np:NP461895.RAGg_lOqKyPoUY9uWwhfXU0fDi_XHd02yk2_yDnd1817g130_provenance; np:hasPublicationInfo dgn-np:NP461895.RAGg_lOqKyPoUY9uWwhfXU0fDi_XHd02yk2_yDnd1817g130_publicationInfo; a np:Nanopublication . dgn-np:NP461895.RAGg_lOqKyPoUY9uWwhfXU0fDi_XHd02yk2_yDnd1817g130_assertion a np:Assertion . dgn-np:NP461895.RAGg_lOqKyPoUY9uWwhfXU0fDi_XHd02yk2_yDnd1817g130_provenance a np:Provenance . dgn-np:NP461895.RAGg_lOqKyPoUY9uWwhfXU0fDi_XHd02yk2_yDnd1817g130_publicationInfo a np:PublicationInfo . } dgn-np:NP461895.RAGg_lOqKyPoUY9uWwhfXU0fDi_XHd02yk2_yDnd1817g130_assertion { miriam-gene:6492 a ncit:C16612 . lld:C0028754 a ncit:C7057 . dgn-gda:DGN815183f23de1bfaf239cad205595b4ee sio:SIO_000628 miriam-gene:6492, lld:C0028754; a sio:SIO_001121 . } dgn-np:NP461895.RAGg_lOqKyPoUY9uWwhfXU0fDi_XHd02yk2_yDnd1817g130_provenance { dgn-np:NP461895.RAGg_lOqKyPoUY9uWwhfXU0fDi_XHd02yk2_yDnd1817g130_assertion dcterms:description "[Herein we report cytogenetic and gene studies including a screening for the SIM1 gene deletion, performed on 87 patients with PWS-like phenotype, and describe the fifth case of syndromic obesity with an interstitial deletion of the chromosome segment 6q16-q21 and suggest that mutational analysis and further studies of the parental origin of chromosome alterations of 6q16.2 in patients with and without PWS-like phenotype are needed to evaluate possible imprinting effects of SIM1 gene and establish the contribution that alterations in this gene makes to the etiology of syndromic and non-syndromic obesity.]. 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:16829351; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP461895.RAGg_lOqKyPoUY9uWwhfXU0fDi_XHd02yk2_yDnd1817g130_publicationInfo { this: dcterms:created "2014-10-02T12:36:35+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }