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中文Spinocerebellar Ataxia, Autosomal Recessive 30 (SCAR30)
Alias:
Scar30
Spinocerebellar Ataxia, Autosomal Recessive, 30
Autosomal Recessive Spinocerebellar Ataxia 30
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脊髓小脑性共济失调，常染色体隐性30型，也称为scar30，与脊髓小脑性共济失调，常染色体隐性31型有关。与脊髓小脑性共济失调，常染色体隐性30型有关的重要基因是PITRM1（Pitrilysin Metallopeptidase 1）。相关组织包括脊髓和小脑，相关表型包括全球发育延迟和智力障碍，轻度
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