http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_head http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_assertion http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_assertion http://identifiers.org/ncbigene/4286 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/C0019569 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#DGNcc8a2fe9f6eb0aec27c061c54950d719 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4286 http://rdf.disgenet.org/gene-disease-association.ttl#DGNcc8a2fe9f6eb0aec27c061c54950d719 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0019569 http://rdf.disgenet.org/gene-disease-association.ttl#DGNcc8a2fe9f6eb0aec27c061c54950d719 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_assertion http://purl.org/dc/terms/description [The recent identification of a deletion encompassing three of the SOX10 regulatory elements in a patient presenting with another WS subtype, WS4, defined by its association with Hirschsprung disease, led us to search for deletions and point mutations within the MITF and SOX10 regulatory elements in 28 yet unexplained WS2 cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_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#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22848661 http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_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#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_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#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://purl.org/dc/terms/created 2014-10-02T12:39:28+02:00 http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU 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