http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_head http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_assertion http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_provenance http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_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/DGN253f414574f3e583613dd1c72e12f662 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2261 http://rdf.disgenet.org/resource/gda/DGN253f414574f3e583613dd1c72e12f662 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0410529 http://rdf.disgenet.org/resource/gda/DGN253f414574f3e583613dd1c72e12f662 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_provenance http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_assertion http://purl.org/dc/terms/description [Mutations in FGFR3 result in skeletal dysplasias of variable severity, including mild phenotypic effects in hypochondroplasia (HCH), severe phenotypic effects in thanatophoric dysplasia types I (TDI) and II (TDII), and severe but survivable phenotypic effects in severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_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/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17561467 http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_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/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://purl.org/dc/terms/created 2016-05-13T12:46:24+02:00 http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP614574.RA84b2jjg5ykOcl_H_hvIDbYU78CqlwcSi9s5hLiD4YbU 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