http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_head http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_assertion http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_provenance http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_assertion http://identifiers.org/ncbigene/8829 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0162835 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN30b8cefb0d2110605e41fc6321e3d97f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8829 http://rdf.disgenet.org/resource/gda/DGN30b8cefb0d2110605e41fc6321e3d97f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162835 http://rdf.disgenet.org/resource/gda/DGN30b8cefb0d2110605e41fc6321e3d97f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_provenance http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8875953 http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://purl.org/dc/terms/created 2016-05-13T12:52:02+02:00 http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1360525.RAqn5FbjS1ZhAV-p7O_0v1euaufpFGHp_80dD7wJ7MAqI http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0