@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:NP1360526.RAqgh2dH9M8CiaP2nUGDfQ5hIMCXM4paRWgrDepzVjTTY130_head { this: np:hasAssertion dgn-np:NP1360526.RAqgh2dH9M8CiaP2nUGDfQ5hIMCXM4paRWgrDepzVjTTY130_assertion; np:hasProvenance dgn-np:NP1360526.RAqgh2dH9M8CiaP2nUGDfQ5hIMCXM4paRWgrDepzVjTTY130_provenance; np:hasPublicationInfo dgn-np:NP1360526.RAqgh2dH9M8CiaP2nUGDfQ5hIMCXM4paRWgrDepzVjTTY130_publicationInfo; a np:Nanopublication . dgn-np:NP1360526.RAqgh2dH9M8CiaP2nUGDfQ5hIMCXM4paRWgrDepzVjTTY130_assertion a np:Assertion . dgn-np:NP1360526.RAqgh2dH9M8CiaP2nUGDfQ5hIMCXM4paRWgrDepzVjTTY130_provenance a np:Provenance . dgn-np:NP1360526.RAqgh2dH9M8CiaP2nUGDfQ5hIMCXM4paRWgrDepzVjTTY130_publicationInfo a np:PublicationInfo . } dgn-np:NP1360526.RAqgh2dH9M8CiaP2nUGDfQ5hIMCXM4paRWgrDepzVjTTY130_assertion { miriam-gene:8829 a ncit:C16612 . lld:C0080024 a ncit:C7057 . dgn-gda:DGN86ebccadd5f37965111eab55ee620780 sio:SIO_000628 miriam-gene:8829, lld:C0080024; a sio:SIO_001121 . } dgn-np:NP1360526.RAqgh2dH9M8CiaP2nUGDfQ5hIMCXM4paRWgrDepzVjTTY130_provenance { dgn-np:NP1360526.RAqgh2dH9M8CiaP2nUGDfQ5hIMCXM4paRWgrDepzVjTTY130_assertion dcterms:description "[Heterozygous mutations in the gene for the Kit transmembrane receptor have been identified recently in human piebaldism and mouse dominant spotting. Interestingly, all of the 14 known missense mutations that cause depigmentation in these species map to the tyrosine kinase domain of the receptor, whereas none have involved the extracellular ligand-binding domain.]. 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:8875953; 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:NP1360526.RAqgh2dH9M8CiaP2nUGDfQ5hIMCXM4paRWgrDepzVjTTY130_publicationInfo { this: dcterms:created "2016-05-13T12:52:02+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" . }