http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_head http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_assertion http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_provenance http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_assertion http://identifiers.org/ncbigene/2261 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/C0410529 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/DGNe7b764b65094f9ad68f9e0a07d60ebff http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2261 http://rdf.disgenet.org/resource/gda/DGNe7b764b65094f9ad68f9e0a07d60ebff http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0410529 http://rdf.disgenet.org/resource/gda/DGNe7b764b65094f9ad68f9e0a07d60ebff http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_provenance http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_assertion http://purl.org/dc/terms/description [To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed height, arm span, and skeletal radiographs from 23 patients with achondroplasia and the G380R mutation of FGFR3 and eight with hypochondroplasia and the N540K mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9853502 http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://purl.org/dc/terms/created 2016-05-13T12:52:26+02:00 http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0