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中文Cerebellar Ataxia Type 43 (SCA43)
Alias:
Sca43
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小脑型43型共济失调，又称sca43，与铜蓝蛋白缺乏症和常染色体显性小脑共济失调有关。与小脑型43型共济失调相关的重要基因是TMEM240（跨膜蛋白240），其相关通路/超级通路包括多巴胺-DARPP32反馈通路到cAMP通路和发育FGFR信号通路。相关表型为神经系统和生长/大小/身体部位
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