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中文Angelman Syndrome Due to a Point Mutation
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安格曼综合症（由于点突变） 与安格曼综合症（由于点突变）有关的重要基因是UBE3A（泛素蛋白连接酶E3A）。相关组织包括舌和皮肤，相关表型为癫痫和EEG异常。
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MALACARDS
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