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DESCRIBE <http://purl.uniprot.org/SHA-384/3770E4D7234F5C6C4707E4A4D809422A10C2460A32071EADE18260BE749833264949C7075C2B8D6975325B6C5173125F>
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http://purl.uniprot.org/SHA-384/3770E4D7234F5C6C4707E4A4D809422A10C2460A32071EADE18260BE749833264949C7075C2B8D6975325B6C5173125F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/3770E4D7234F5C6C4707E4A4D809422A10C2460A32071EADE18260BE749833264949C7075C2B8D6975325B6C5173125F
http://www.w3.org/2000/01/rdf-schema#comment
"The S248R and R250T mutations of SCN1Bbeta gene caused gain-of-function of Ito by associated with Kv4.3 which maybe underlie the early repolarization syndrome (ERS) phenotype of the probands."
xsd:string
http://purl.uniprot.org/uniprot/#_0F85EB3B769E366671CFB80E61F28324136EF8E01C6ACFAB001AFB771A0AE775FDF92AC17622FD48A84EDD8399FD3F74
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/3770E4D7234F5C6C4707E4A4D809422A10C2460A32071EADE18260BE749833264949C7075C2B8D6975325B6C5173125F
http://purl.uniprot.org/uniprot/Q2KHR9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3770E4D7234F5C6C4707E4A4D809422A10C2460A32071EADE18260BE749833264949C7075C2B8D6975325B6C5173125F
http://purl.uniprot.org/uniprot/#_Q2KHR9-mappedCitation-30160358
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3770E4D7234F5C6C4707E4A4D809422A10C2460A32071EADE18260BE749833264949C7075C2B8D6975325B6C5173125F