http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_head http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_assertion http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_provenance http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_assertion http://identifiers.org/ncbigene/5979 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/C0018671 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/DGNb88fe9e8611c2cccd91cb7a0f1b80f75 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5979 http://rdf.disgenet.org/resource/gda/DGNb88fe9e8611c2cccd91cb7a0f1b80f75 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018671 http://rdf.disgenet.org/resource/gda/DGNb88fe9e8611c2cccd91cb7a0f1b80f75 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_provenance http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_assertion http://purl.org/dc/terms/description [In contrast to other series, this cohort of Spanish patients showed many SDHB mutations. Sporadic cases with germline mutation are frequent and underline the importance of mutational screening of all PGL patients, allowing the identification of relatives ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20208144 http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/gad-20150221 http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/gad-20150221 http://purl.org/pav/importedOn 2015-02-21 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://purl.org/dc/terms/created 2015-08-25T14:38:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP126530.RAfmPiUGGjbF-OeRtEUFpPHnN3XRLzZZddsfBL_ayJK9k 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