@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:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_head { this: np:hasAssertion dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_assertion; np:hasProvenance dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_provenance; np:hasPublicationInfo dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_publicationInfo; a np:Nanopublication . dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_assertion a np:Assertion . dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_provenance a np:Provenance . dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_publicationInfo a np:PublicationInfo . } dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_assertion { miriam-gene:79083 a ncit:C16612 . lld:C0162835 a ncit:C7057 . dgn-gda:DGNe30fbc3bfe4a92547dfda3be8d6dea6b sio:SIO_000628 miriam-gene:79083, lld:C0162835; a sio:SIO_001121 . } dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_provenance { dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_assertion dcterms:description "[We herein present genetic and functional evidence that a third form of GS (GS3), whose expression is restricted to the characteristic hypopigmentation of GS, results from mutation in the gene that encodes melanophilin (Mlph), the ortholog of the gene mutated in leaden mice.]. 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:12897212; 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:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_publicationInfo { this: dcterms:created "2014-10-02T12:36:02+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" . }