http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_head http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_assertion http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_provenance http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_assertion http://identifiers.org/ncbigene/54982 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/C0027877 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/DGNe6809bb633f6266ede48dbc402605b84 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/54982 http://rdf.disgenet.org/resource/gda/DGNe6809bb633f6266ede48dbc402605b84 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0027877 http://rdf.disgenet.org/resource/gda/DGNe6809bb633f6266ede48dbc402605b84 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_provenance http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_assertion http://purl.org/dc/terms/description [A survey of fibroblasts and lymphoblasts demonstrated that lack of activity was associated with LINCL arising from mutations in the CLN2 gene but not other neuronal ceroid lipofuscinoses (NCLs), including the CLN6 variant LINCL, classical infantile NCL, classical juvenile NCL, and adult NCL (Kufs' disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10428067 http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://purl.org/dc/terms/created 2016-05-13T12:43:43+02:00 http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP258975.RA4bxUfXQmfQ71M_2_pNQ4NoWJWePM6WHRVSXHHumkd1E http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0