http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_head http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_assertion http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_provenance http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_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/C0431863 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/DGNce6a3e61fdc404c2fa57b1350f47b6a6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9241 http://rdf.disgenet.org/resource/gda/DGNce6a3e61fdc404c2fa57b1350f47b6a6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0431863 http://rdf.disgenet.org/resource/gda/DGNce6a3e61fdc404c2fa57b1350f47b6a6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_provenance http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_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/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17668388 http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://purl.org/dc/terms/created 2015-08-25T14:45:56+02:00 http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0