http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_head http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_assertion http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_provenance http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_assertion http://identifiers.org/ncbigene/7466 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/C0043207 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/DGN45d32eb1e203449742b7f8996e30121f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7466 http://rdf.disgenet.org/resource/gda/DGN45d32eb1e203449742b7f8996e30121f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0043207 http://rdf.disgenet.org/resource/gda/DGN45d32eb1e203449742b7f8996e30121f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_provenance http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_assertion http://purl.org/dc/terms/description [WFS1 variants were identified in eight subjects from seven families with WS, leading to the identification of four novel mutations, Q194X (nonsense), H313Y (missense), L313fsX360 (duplication frame shift) and F883fsX951 (deletion frame shift), and four previously reported mutations, A133T and L543R (missense), V415del (in frame triple deletion) and F883fsX950 (deletion frame shift).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_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/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16151413 http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_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/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://purl.org/dc/terms/created 2016-05-13T12:45:37+02:00 http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP512624.RA-2PQez_Dhtg92g9G7xTAJRF540RXx19cuQop9hUCV-I 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