http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_head http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_assertion http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_provenance http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_assertion http://identifiers.org/ncbigene/9241 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/C1861385 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#DGN260bfd231f3400a0f287bf99dece4df6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9241 http://rdf.disgenet.org/gene-disease-association.ttl#DGN260bfd231f3400a0f287bf99dece4df6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1861385 http://rdf.disgenet.org/gene-disease-association.ttl#DGN260bfd231f3400a0f287bf99dece4df6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_provenance http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_assertion http://purl.org/dc/terms/description [In a subset of ROR2-negative patients with BDB, clinically defined by the additional occurrence of proximal symphalangism and carpal synostosis, we identified six different point mutations (P35A, P35S, A36P, E48K, R167G, and P187S) in the bone morphogenetic protein (BMP) antagonist NOGGIN (NOG).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_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#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17668388 http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_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#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_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#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://purl.org/dc/terms/created 2014-10-02T12:37:15+02:00 http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP526386.RA5Tg0AJijBg_v3v42QOxzL05GfQatubrzozKIOQBwl2o 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