http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_head http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_assertion http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_assertion http://identifiers.org/ncbigene/59341 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/C0031117 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#DGNb0348132898accddb9ac0b8b80bc4613 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/59341 http://rdf.disgenet.org/gene-disease-association.ttl#DGNb0348132898accddb9ac0b8b80bc4613 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0031117 http://rdf.disgenet.org/gene-disease-association.ttl#DGNb0348132898accddb9ac0b8b80bc4613 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_assertion http://purl.org/dc/terms/description [Although some degree of restriction of movements is not uncommon in fetuses with skeletal dysplasia, akinesia as leading sign is unusual and suggests that certain TRPV4 mutations produce both chondrodysplasia and a peripheral neuropathy resulting in a severe `overlap` phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_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#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21964829 http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_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#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_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#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://purl.org/dc/terms/created 2014-10-02T12:41:09+02:00 http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM 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