http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_head http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_assertion http://identifiers.org/ncbigene/1311 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/C0410538 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/DGNd98da0c338abc5da028c3c3da16566bc http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1311 http://rdf.disgenet.org/resource/gda/DGNd98da0c338abc5da028c3c3da16566bc http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0410538 http://rdf.disgenet.org/resource/gda/DGNd98da0c338abc5da028c3c3da16566bc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_assertion http://purl.org/dc/terms/description [We have identified two expansion mut-ations in this repeat: an MED patient carrying a (GAC)6allele and a PSACH patient carrying a (GAC)7allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9887340 http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/ctd_human-20150221 http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v3.0.0/void/ctd_human-20150221 http://purl.org/pav/importedOn 2015-02-21 http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://purl.org/dc/terms/created 2015-08-25T14:37:47+02:00 http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP10996.RAKSK3w3mxZ65qrhaSMKrZbXEFyOLYswD_9lQUF_OsFhQ http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0