http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k#head http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k#assertion http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k#provenance http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k#assertion http://rdf.disgenet.org/resource/gda/DGN03629e5080b477cd699c7d3eb2d61125 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2477 http://rdf.disgenet.org/resource/gda/DGN03629e5080b477cd699c7d3eb2d61125 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0038506 http://rdf.disgenet.org/resource/gda/DGN03629e5080b477cd699c7d3eb2d61125 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k#provenance http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k#assertion http://purl.org/dc/terms/description [A distinctive pattern of tapering or 'stutter' polymerase chain reaction amplification was evident on capillary electrophoresis in male and female patients harboring all expanded allele lengths examined (up to 2000 CGG repeats) and could be used to differentiate normal, intermediate, premutation, and full mutation alleles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k#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/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20168238 http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k#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/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://purl.org/dc/terms/created 2017-10-17T13:12:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP418836.RAX20H3X4f09lZ9vNqyW-nLthH6Gf9o74yWnXXPl8kt2k 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