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Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature.
Clinical Dysmorphology ( IF 0.4 ) Pub Date : 2020-10-01 , DOI: 10.1097/mcd.0000000000000326 Ayberk Türkyilmaz 1 , Dilşad Türkdoğan 2 , Zeliha Görmez 3 , Gazanfer Ekinci 4
中文翻译：
扩大SMC1A无意义变体的表型谱：小脑萎缩患者和文献复习。
更新日期：2020-06-02
Clinical Dysmorphology ( IF 0.4 ) Pub Date : 2020-10-01 , DOI: 10.1097/mcd.0000000000000326 Ayberk Türkyilmaz 1 , Dilşad Türkdoğan 2 , Zeliha Görmez 3 , Gazanfer Ekinci 4
Affiliation
中文翻译：
扩大SMC1A无意义变体的表型谱：小脑萎缩患者和文献复习。
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