http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw#head http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw#assertion http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw#provenance http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw#assertion http://rdf.disgenet.org/resource/gda/DGN4cbc02321a0c96f1d48a096a828db09a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/54982 http://rdf.disgenet.org/resource/gda/DGN4cbc02321a0c96f1d48a096a828db09a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0027877 http://rdf.disgenet.org/resource/gda/DGN4cbc02321a0c96f1d48a096a828db09a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw#provenance http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw#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/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw#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/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10428067 http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw#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/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://purl.org/dc/terms/created 2017-10-17T13:18:38+02:00 http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1328815.RAmh5a-blQDvHRApoEoTCPHKQpZK6benUFDTtR8-jhMAw 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