dgn-np:NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_provenance {
  dgn-np:NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_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 .
}