http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50#head http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50#assertion http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50#provenance http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50#assertion http://rdf.disgenet.org/resource/gda/DGNe878189c20a19761d22c2fd4012a141c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2261 http://rdf.disgenet.org/resource/gda/DGNe878189c20a19761d22c2fd4012a141c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013336 http://rdf.disgenet.org/resource/gda/DGNe878189c20a19761d22c2fd4012a141c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50#provenance http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50#assertion http://purl.org/dc/terms/description [Our results demonstrate that the spectrum of FGFR3 mutations causing short-limb dwarfism is wider than originally recognised and emphasise the requirement for complete screening of the FGFR3 gene if appropriate genetic counselling is to be offered to patients with HCH or ACH lacking the most common mutations and their families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50#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/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16912704 http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50#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/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://purl.org/dc/terms/created 2017-10-17T13:12:43+02:00 http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP398436.RAIBkAv-N99IC9de1odBlH6itG78e6z09m-odXqkKnk50 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