http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw#head http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw#assertion http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw#provenance http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw#assertion http://rdf.disgenet.org/resource/gda/DGN2208348cae39e5575c58321ba8433b59 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/80067 http://rdf.disgenet.org/resource/gda/DGN2208348cae39e5575c58321ba8433b59 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0406587 http://rdf.disgenet.org/resource/gda/DGN2208348cae39e5575c58321ba8433b59 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw#provenance http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw#assertion http://purl.org/dc/terms/description [This study doubles the number of known mutations for this disorder, confirms that truncating mutations in C2orf37 are the only known cause of WSS, and suggests that mutations in this gene do not contribute significantly to cases presenting with isolated elements of WSS such as deafness and dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw#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/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20507343 http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw#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/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://purl.org/dc/terms/created 2017-10-17T13:18:55+02:00 http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1373840.RA4G-gkDBWDbhKXyG2fBxirNKH5ciunof-WzprU9KkHvw 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