http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_head http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_assertion http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_provenance http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_assertion http://identifiers.org/ncbigene/2477 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/C0016667 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/DGNbef59b2feed594bad043ec69c734dc5e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2477 http://rdf.disgenet.org/resource/gda/DGNbef59b2feed594bad043ec69c734dc5e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0016667 http://rdf.disgenet.org/resource/gda/DGNbef59b2feed594bad043ec69c734dc5e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_provenance http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_assertion http://purl.org/dc/terms/description [Expansion of an unstable (CGG)n repeat to over 200 triplets within the promoter region of the human FMR1 gene leads to extensive local methylation and transcription silencing, resulting in the loss of FMRP protein and the development of the clinical features of fragile X syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_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/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12659659 http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_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/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://purl.org/dc/terms/created 2016-05-13T12:44:41+02:00 http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8 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