http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_head http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_assertion http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_provenance http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_assertion http://identifiers.org/ncbigene/3815 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/C3266898 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/gene-disease-association.ttl#DGN072e080954cb797cd6ec9cf7a9964c0c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3815 http://rdf.disgenet.org/gene-disease-association.ttl#DGN072e080954cb797cd6ec9cf7a9964c0c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3266898 http://rdf.disgenet.org/gene-disease-association.ttl#DGN072e080954cb797cd6ec9cf7a9964c0c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_provenance http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_assertion http://purl.org/dc/terms/description [We hypothesized that an 8-year-old girl and her mother who had unusual piebaldism of a progressive nature would have a novel mutation of the KIT gene, the gene that is altered in patients with piebaldism, or of the MITF (microphthalmia activating transcription factor) gene, which would be expected to cause type II Waardenburg syndrome, but is associated with a phenotype of progressive depigmentation in mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11174389 http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://purl.org/dc/terms/created 2014-10-02T12:35:30+02:00 http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP357854.RA0BlyvFzB2Ubh9Jl4BAFNzJp-3M7De2vHp0MPBNgRx5Q http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0