http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM#head http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM#assertion http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM#provenance http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM#assertion http://rdf.disgenet.org/resource/gda/DGNfd9017a9e01c6d622734506ce2644a00 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9839 http://rdf.disgenet.org/resource/gda/DGNfd9017a9e01c6d622734506ce2644a00 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268390 http://rdf.disgenet.org/resource/gda/DGNfd9017a9e01c6d622734506ce2644a00 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM#provenance http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM#assertion http://purl.org/dc/terms/description [Over 100 mutations have been described in patients with clinically typical MWS, who almost always have whole gene deletions or truncating mutations (nonsense or frameshift) of ZFHX1B, suggesting that haploinsufficiency is the basis of MWS pathology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM#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/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17203459 http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM#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/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://purl.org/dc/terms/created 2017-10-17T13:17:49+02:00 http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1198477.RAI1C3EiSc9uD5jxRoH1fIWodJfe8x0QsnZg1CQh8SxfM 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