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Genetic and clinical features of the patients with PKD/IC harboring PRRT2 mutations.

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Figshare2015-12-02 更新2026-04-29 收录
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https://figshare.com/articles/dataset/_Genetic_and_clinical_features_of_the_patients_with_PKD_IC_harboring_PRRT2_mutations_/268714
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Abbreviation: M = male; F = female; y = years; AS = apparently sporadic; SM = sudden movements; IM = intention to move; S = startle; s = stress; D = dystonia; C = choreoathetosis; CBZ = carbamazepine; m = month; w = week; PHT = phenytoin; OXC = oxcarbazepine; IC = infantile convulsions.aThese patients have novel mutations.
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2015-12-02
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