http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_head http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_assertion http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_provenance http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_assertion http://identifiers.org/ncbigene/6041 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/C0238339 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/DGNa396240d45f962385deb8a1a96249e08 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6041 http://rdf.disgenet.org/resource/gda/DGNa396240d45f962385deb8a1a96249e08 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0238339 http://rdf.disgenet.org/resource/gda/DGNa396240d45f962385deb8a1a96249e08 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_provenance http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_assertion http://purl.org/dc/terms/description [We conclude that, although RNASEL mutations do not explain disease segregation in Finnish families with HPC, the variants are enriched in families with HPC that include more than two affected members and may also be associated with the age at disease onset.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_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/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11941539 http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_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/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://purl.org/dc/terms/created 2016-05-13T12:44:24+02:00 http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP351232.RABwUHZ0WYNJSs2V_V9h8tHxWiGMYlC-gW19FwNBlUF-Y 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