http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_head http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_assertion http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_provenance http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_assertion http://identifiers.org/ncbigene/3308 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/C1839780 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/DGN3f17403591e3a18317df88955f441de3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3308 http://rdf.disgenet.org/resource/gda/DGN3f17403591e3a18317df88955f441de3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1839780 http://rdf.disgenet.org/resource/gda/DGN3f17403591e3a18317df88955f441de3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_provenance http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_assertion http://purl.org/dc/terms/description [Here we report a cellular endophenotype involving increased stress response (HSP27, HSP70 and CRYAB) and altered lamin A/C expression/organization in cultured skin fibroblasts from 11 male carriers of premutation alleles of the FMR1 gene, including six patients with FXTAS and five premutation carriers with no clinical evidence of FXTAS, compared with six controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19864489 http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://purl.org/dc/terms/created 2015-08-25T14:42:15+02:00 http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP467679.RAx6JjPsdsIH0ZdgdwA0SHhIJAcwxyD2jQbj5ThO2DyjM http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0