http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU#head http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU#assertion http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU#provenance http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU#assertion http://rdf.disgenet.org/resource/gda/DGNbce95746eeaa518d80c6975bbb8619a4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3664 http://rdf.disgenet.org/resource/gda/DGNbce95746eeaa518d80c6975bbb8619a4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0175697 http://rdf.disgenet.org/resource/gda/DGNbce95746eeaa518d80c6975bbb8619a4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU#provenance http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU#assertion http://purl.org/dc/terms/description [Additionally, the identification of the same mutations responsible for VWS in Pakistan, as reported in other global populations worldwide, marks these residues as mutational hotspots and indicates their essential role in structural stability or function of IRF6.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU#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/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20184620 http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU#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/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://purl.org/dc/terms/created 2017-10-17T13:14:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP600673.RAAdqER8fILG2plbewxCRQ6LshLounosCeKmLO_DFvhnU 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