http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4#head http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4#assertion http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4#provenance http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4#assertion http://rdf.disgenet.org/resource/gda/DGN0788adb2a34e301fbeef074374357386 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3064 http://rdf.disgenet.org/resource/gda/DGN0788adb2a34e301fbeef074374357386 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020179 http://rdf.disgenet.org/resource/gda/DGN0788adb2a34e301fbeef074374357386 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4#provenance http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4#assertion http://purl.org/dc/terms/description [Given the negative UPD results, the proband's unaffected mother either had a reduced penetrance allele that expanded into the full mutation range during transmission to our patient or an unknown full HTT mutation and died before symptom onset, unlikely given no family history of HD and asymptomatic at age 59.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4#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/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25736541 http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4#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/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://purl.org/dc/terms/created 2017-10-17T13:13:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP480046.RAfOXVDazDr-XgMV_l8J6yEWbXNudoUqpIAS6083W1_y4 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