http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA#head http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA#assertion http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA#provenance http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA#assertion http://rdf.disgenet.org/resource/gda/DGN301271506a4b4e548540d542dc4aad61 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/106478973 http://rdf.disgenet.org/resource/gda/DGN301271506a4b4e548540d542dc4aad61 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0016667 http://rdf.disgenet.org/resource/gda/DGN301271506a4b4e548540d542dc4aad61 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA#provenance http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA#assertion http://purl.org/dc/terms/description [To improve our understanding of mutations in normal alleles of FMR-1, the following studies were carried out in the Japanese population: a study on length variation in the repeat to determine the allele distribution of the repeat length in a non-retarded population, family studies to observe new mutations in normal allele, and haplotype analyses with microsatellite markers flanking the repeat to confirm estimated mutation rates and founder chromosomes in the fragile X syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA#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/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8244331 http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA#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/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://purl.org/dc/terms/created 2017-10-17T13:19:30+02:00 http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1469181.RACMetAjIbvA7Dn-wHjuC9iy9_OFKBPGMs4gQ2663QAFA 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