http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8#head http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8#assertion http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8#provenance http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8#assertion http://rdf.disgenet.org/resource/gda/DGNfa0305dd1430386fbee8fa3a3df9e3c3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7450 http://rdf.disgenet.org/resource/gda/DGNfa0305dd1430386fbee8fa3a3df9e3c3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0005129 http://rdf.disgenet.org/resource/gda/DGNfa0305dd1430386fbee8fa3a3df9e3c3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8#provenance http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8#assertion http://purl.org/dc/terms/description [Both the genetic defects and the bleeding diatheses associated with the syndrome are heterogeneous due, in part, to the complexity of the involved receptor which consists of four different members, GPs: Ib alpha-Mr 143 K (contains the von Willebrand factor-binding site), Ib beta-Mr 22 K, V-Mr 83 K and IX-Mr 20 K. We studied a kindred that includes a 40 year-old man with severe Bernard-Soulier syndrome: life-threatening gastrointestinal bleeding, thrombocytopenia, giant platelets and absent ristocetin-dependent platelet aggregation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8950770 http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://purl.org/dc/terms/created 2017-10-17T13:17:17+02:00 http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1113044.RAmsBCtuazC1FRoWv6j2os5Y0-MtNbBqCnQ8MWCTqqGA8 http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0