http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_head http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_assertion http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_provenance http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_assertion http://identifiers.org/ncbigene/7248 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/C1854465 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/DGN3dacf13eab914a091ab43e11d5f17de1 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7248 http://rdf.disgenet.org/resource/gda/DGN3dacf13eab914a091ab43e11d5f17de1 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1854465 http://rdf.disgenet.org/resource/gda/DGN3dacf13eab914a091ab43e11d5f17de1 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_provenance http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_assertion http://purl.org/dc/terms/description [We conclude that there is a reduced risk of mental retardation in TSC1 as opposed to TSC2 disease and that consequent ascertainment bias, at least in part, explains the relative paucity of TSC1 mutations in sporadic TSC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_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/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9328481 http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/uniprot-20150221 http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 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/v3.0.0/void/uniprot-20150221 http://purl.org/pav/importedOn 2015-02-21 http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://purl.org/dc/terms/created 2015-08-25T14:37:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E 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