http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE#head http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE#assertion http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE#provenance http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE#assertion http://rdf.disgenet.org/resource/gda/DGNfdf289f72f26e5a4ece8348bb541743d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/55703 http://rdf.disgenet.org/resource/gda/DGNfdf289f72f26e5a4ece8348bb541743d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0023520 http://rdf.disgenet.org/resource/gda/DGNfdf289f72f26e5a4ece8348bb541743d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE#provenance http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE#assertion http://purl.org/dc/terms/description [The classical form is characterized by the association of hypomyelination, abnormal dentition, and hypogonadotropic hypogonadism, but the recent identification of two genes (POLR3A and POLR3B) responsible for the syndrome demonstrates that these three main characteristics can be variably combined among 'Pol-III (polymerase III)-related leukodystrophies.']. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE#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/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26204956 http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE#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/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://purl.org/dc/terms/created 2017-10-17T13:18:41+02:00 http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1337013.RAsFjJVz6wJfKiIJX1vZWJ30sTkGMbSmOz30JUPx-L8mE 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