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http://purl.uniprot.org/SHA-384/1AFAFB98A47630E5C6FCA06F3B35D4C50994CA700CF2AEBC21ED0961659649903109C443276B4C1D91A590CFDA3CE77Dhttp://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/1AFAFB98A47630E5C6FCA06F3B35D4C50994CA700CF2AEBC21ED0961659649903109C443276B4C1D91A590CFDA3CE77Dhttp://www.w3.org/2000/01/rdf-schema#comment"ATP1A3 gene is the main causative gene of AHC. Three hotspot mutations D801N E815K and G947R were found. Hotspot mutation E815K is associated with the most severe phenotype which presented an earlier age at the time of the first paroxysmal manifestation and first hemiplegic event severer developmental delay and a greater proportion of epilepsy"xsd:string
http://purl.uniprot.org/uniprot/#_DBE20414B06FCB57862CA35E592B20B9BECBC83A06583F0A1580BE841B61A42073225966CE0EFFA393C360A74A8224B9http://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/1AFAFB98A47630E5C6FCA06F3B35D4C50994CA700CF2AEBC21ED0961659649903109C443276B4C1D91A590CFDA3CE77D
http://purl.uniprot.org/uniprot/P13637http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/1AFAFB98A47630E5C6FCA06F3B35D4C50994CA700CF2AEBC21ED0961659649903109C443276B4C1D91A590CFDA3CE77D
http://purl.uniprot.org/uniprot/#_P13637-mappedCitation-30392204http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/1AFAFB98A47630E5C6FCA06F3B35D4C50994CA700CF2AEBC21ED0961659649903109C443276B4C1D91A590CFDA3CE77D