http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw#head http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw#assertion http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw#provenance http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw#assertion http://rdf.disgenet.org/resource/gda/DGN0426a1654310d68e5102eedf632ab118 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9241 http://rdf.disgenet.org/resource/gda/DGN0426a1654310d68e5102eedf632ab118 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0431863 http://rdf.disgenet.org/resource/gda/DGN0426a1654310d68e5102eedf632ab118 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw#provenance http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw#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/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw#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/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17668388 http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw#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/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://purl.org/dc/terms/created 2017-10-17T13:17:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1178640.RAmFDtr5AovYjS0jXcCQMLnuOuMY1W0-FEvOF4ctsQMnw 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