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中文Spinocerebellar Ataxia, Autosomal Recessive 23 (SCAR23)
Alias:
Scar23
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due to Tud Deficiency
Autosomal Recessive Spinocerebellar Ataxia 23
Ataxia, Spinocerebellar, Autosomal Recessive, Type 23
Spinocerebellar Ataxia Autosomal Recessive Type 23
Spinocerebellar Ataxia, Autosomal Recessive, 23
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脊髓小脑性共济失调23型，又称scar23，与常染色体显性小脑共济失调和脊髓小脑性共济失调23有关。与脊髓小脑性共济失调23相关的基因是TDP2（酪氨酸-DNA磷酸二酯酶2），其相关通路/超级通路包括DNA损伤和碱基切除修复。相关组织包括脊髓和小脑，相关表型包括智力障碍和癫痫。
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