http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo#head http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo#assertion http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo#provenance http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo#assertion http://rdf.disgenet.org/resource/gda/DGN6342cf23fd4f5dbddd6919a4174135fd http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1201 http://rdf.disgenet.org/resource/gda/DGN6342cf23fd4f5dbddd6919a4174135fd http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751383 http://rdf.disgenet.org/resource/gda/DGN6342cf23fd4f5dbddd6919a4174135fd http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo#provenance http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo#assertion http://purl.org/dc/terms/description [In the last five years, specific mutations have been defined in Lafora disease (gene for laforin or dual specificity phosphatase in 6q24), Unverricht-Lundborg disease (cystatin B in 21q22.3), Jansky-Bielschowsky ceroid lipofuscinoses (CLN2 gene for tripeptidyl peptidase 1 in 11q15), Finnish variant of late infantile ceroid lipofuscinoses (CLN5 gene in 13q21-32 encodes 407 amino acids with two transmembrane helices of unknown function), juvenile ceroid lipofuscinoses or Batten disease (CLN3 gene in 16p encodes 438 amino acid protein of unknown function), a subtype of Batten disease and infantile ceroid lipofuscinoses of the Haltia-Santavuori type (both are caused by mutations in palmitoyl-protein thiosterase gene at 1p32), dentadorubropallidoluysian atrophy (CAG repeats in a gene in 12p13.31) and the mitochondrial syndrome MERRF (tRNA Lys mutation in mitochondrial DNA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo#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/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11579433 http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo#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/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://purl.org/dc/terms/created 2017-10-17T13:11:36+02:00 http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP219903.RAF0-3NP9ZBiAe19298QmMrGPA9Y0JmtoFmNL7PQfsLuo 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