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注意:仅列出部分参考文献,下载原文获取全部文献信息。D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias
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Perry Elliott et al.
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A Repetto et al.
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NG Mahon et al.
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JH van Berlo et al.
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RT Murphy et al.
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