http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_head http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_assertion http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_provenance http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_assertion http://identifiers.org/ncbigene/861 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/C0023467 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/DGN59cf741a41f7658b5009771fc5aed7d6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/861 http://rdf.disgenet.org/resource/gda/DGN59cf741a41f7658b5009771fc5aed7d6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0023467 http://rdf.disgenet.org/resource/gda/DGN59cf741a41f7658b5009771fc5aed7d6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_provenance http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_assertion http://purl.org/dc/terms/description [We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndrome; a missense mutation in a patient with X-linked thrombocytopenia; and mutations in the RUNX1 gene of five patients with familial platelet disorder with propensity to acute myelogenous leukemia, and in the ANKRD26 gene of four patients with autosomal dominant thrombocytopenia-2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_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/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26175287 http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_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/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://purl.org/dc/terms/created 2016-05-13T12:51:31+02:00 http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1290135.RAHDuhtm9iQUUVLk-Jehtj-LFqre7gR2ls-WpJgBL0Rr8 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