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DESCRIBE <http://purl.uniprot.org/SHA-384/E2E819F5A541CB979296EC21A6BDC1D86FF529681D2E62BBDFF275F6706263A808E638C6E1688C879DA219C4BC1FF0FA>
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http://purl.uniprot.org/SHA-384/E2E819F5A541CB979296EC21A6BDC1D86FF529681D2E62BBDFF275F6706263A808E638C6E1688C879DA219C4BC1FF0FA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/E2E819F5A541CB979296EC21A6BDC1D86FF529681D2E62BBDFF275F6706263A808E638C6E1688C879DA219C4BC1FF0FA
http://www.w3.org/2000/01/rdf-schema#comment
"Timothy syndrome is a disease of excessive cellular Ca(2+) entry and life-threatening arrhythmias caused by a mutation in the primary cardiac L-type Ca(2+) channel (Ca(V)1.2)."
xsd:string
http://purl.uniprot.org/uniprot/#_7FABC6607752C14AE28DC9A7CC72743DE9269E7F8AA0DC7274AE1ABAD238DC6760FFEFAECC8E5004FF9375BACE41CED9
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/E2E819F5A541CB979296EC21A6BDC1D86FF529681D2E62BBDFF275F6706263A808E638C6E1688C879DA219C4BC1FF0FA
http://purl.uniprot.org/uniprot/B7Z658
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E2E819F5A541CB979296EC21A6BDC1D86FF529681D2E62BBDFF275F6706263A808E638C6E1688C879DA219C4BC1FF0FA
http://purl.uniprot.org/uniprot/#_B7Z658-mappedCitation-19001023
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E2E819F5A541CB979296EC21A6BDC1D86FF529681D2E62BBDFF275F6706263A808E638C6E1688C879DA219C4BC1FF0FA