http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis#head http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis#assertion http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis#provenance http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis#assertion http://rdf.disgenet.org/resource/gda/DGN7e1ca0a96833a1d1c0bf058d7f8b31ad http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2332 http://rdf.disgenet.org/resource/gda/DGN7e1ca0a96833a1d1c0bf058d7f8b31ad http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751156 http://rdf.disgenet.org/resource/gda/DGN7e1ca0a96833a1d1c0bf058d7f8b31ad http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis#provenance http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis#assertion http://purl.org/dc/terms/description [Fragile X syndrome is caused by the expansion and concomitant methylation of a CGG repeat in the 5' untranslated region of the FMR1 gene which results in the transcriptional silencing of the FMR1 gene, delayed replication of the FMR1 locus, and the formation of a folate sensitive fragile site (FRAXA) at Xq27.3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9131013 http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://purl.org/dc/terms/created 2017-10-17T13:12:48+02:00 http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP412996.RAT7k8QZoyUWZcE0CROA-T9V0uqwJ7k4DK7W4boQypfis http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0