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http://purl.uniprot.org/SHA-384/CA17AB4A9811F3EFB18F8650B54D5EF8BBC6B65DE7B52BE9AAB8640A2C4C865E29B75E90E952E37DB192FFC9ACF23343http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/CA17AB4A9811F3EFB18F8650B54D5EF8BBC6B65DE7B52BE9AAB8640A2C4C865E29B75E90E952E37DB192FFC9ACF23343http://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/#_6EB5474D809131F3AC35C9A771D55958602B699FF8BD14B844B3DF6017390EB97823C6F5856C34D3B7F064FEA95697B4http://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/CA17AB4A9811F3EFB18F8650B54D5EF8BBC6B65DE7B52BE9AAB8640A2C4C865E29B75E90E952E37DB192FFC9ACF23343
http://purl.uniprot.org/uniprot/B3KNQ8http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/CA17AB4A9811F3EFB18F8650B54D5EF8BBC6B65DE7B52BE9AAB8640A2C4C865E29B75E90E952E37DB192FFC9ACF23343
http://purl.uniprot.org/uniprot/#_B3KNQ8-mappedCitation-30392204http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/CA17AB4A9811F3EFB18F8650B54D5EF8BBC6B65DE7B52BE9AAB8640A2C4C865E29B75E90E952E37DB192FFC9ACF23343