http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE#head http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE#assertion http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE#provenance http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE#assertion http://rdf.disgenet.org/resource/gda/DGN503371467204a255596e11a76f4b265f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/106478973 http://rdf.disgenet.org/resource/gda/DGN503371467204a255596e11a76f4b265f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0038506 http://rdf.disgenet.org/resource/gda/DGN503371467204a255596e11a76f4b265f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE#provenance http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE#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/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE#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/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20168238 http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE#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/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://purl.org/dc/terms/created 2017-10-17T13:19:30+02:00 http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1469141.RAySmUF6DjR7oSZGv7IjdNX0koT2HF3iguTnic3SfhPDE 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