http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_head http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_assertion http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_assertion http://identifiers.org/ncbigene/7083 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/gene-disease-association.ttl#DGN3fc32425e8078eb1b03156ca5fa3bd3d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7083 http://rdf.disgenet.org/gene-disease-association.ttl#DGN3fc32425e8078eb1b03156ca5fa3bd3d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0410529 http://rdf.disgenet.org/gene-disease-association.ttl#DGN3fc32425e8078eb1b03156ca5fa3bd3d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_assertion http://purl.org/dc/terms/description [Our results support evidence of similar frequency of common type N540K mutation of FGFR3 in Russian hypochondroplasia and of the genetic heterogeneity of hypochondroplasia, suggesting the need for further search for responsible molecular abnormalities for phenotypically similar hypochondroplasia patients negative for TK1 domain mutation in FGFR3, reported in hypochondroplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_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#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10395236 http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_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#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_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#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://purl.org/dc/terms/created 2014-10-02T12:38:13+02:00 http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP617639.RAFv6Uj34ImtnFxst7IpygOagOkotk1ptuDf2XJDw-UCY 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