http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc#head http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc#assertion http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc#provenance http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc#assertion http://rdf.disgenet.org/resource/gda/DGN8966fb75814f0f8849e0e27c4c57567c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/641 http://rdf.disgenet.org/resource/gda/DGN8966fb75814f0f8849e0e27c4c57567c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0005859 http://rdf.disgenet.org/resource/gda/DGN8966fb75814f0f8849e0e27c4c57567c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc#provenance http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc#assertion http://purl.org/dc/terms/description [The isolation of the gene for BS, known as BLM, has permitted the identification of mutations within the gene and the discovery that most BS individuals of Ashkenazi Jewish origin carry the identical 6-bp deletioin/7-bp insertion at position 2,281 of BLM (blmAsh).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc#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/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9482582 http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc#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/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://purl.org/dc/terms/created 2017-10-17T13:10:57+02:00 http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP119238.RAoWPMggC1zMXCvQOsV_j_cg8N91Ms_blPB4b58ZSbonc 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