http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU#head http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU#assertion http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU#provenance http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU#assertion http://rdf.disgenet.org/resource/gda/DGNf9a21295fc74d7e9bbbd6f98abe8a436 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6609 http://rdf.disgenet.org/resource/gda/DGNf9a21295fc74d7e9bbbd6f98abe8a436 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0004936 http://rdf.disgenet.org/resource/gda/DGNf9a21295fc74d7e9bbbd6f98abe8a436 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU#provenance http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU#assertion http://purl.org/dc/terms/description [All affected subjects were homozygous for the same ancestral mutation, W391G in SMPD1, yet displayed the entire spectrum of phenotypic variation observed previously in unrelated affected subjects of diverse ethnicity and disease-causing mutations, ranging from subclinical retinal involvement to severe ataxia, cognitive deficits and psychiatric disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU#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/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17360762 http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU#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/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://purl.org/dc/terms/created 2017-10-17T13:16:20+02:00 http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP963474.RAK1lsoFoxmoD8nEvxF5C7yOUVE5G3ZyOyu9zPNuPcrHU 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