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bibliographicCitation Hallmann K, Zsurka G, Moskau-Hartmann S, Kirschner J, Korinthenberg R, Ruppert AK, Ozdemir O, Weber Y, Becker F, Lerche H, Elger CE, Thiele H, Nürnberg P, Sander T, Kunz WS. A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology. 2014 Dec 02;83(23):2183–7. doi: 10.1212/wnl.0000000000001055. PMID: 25361775.
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title A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy
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