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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
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。

更新日期:2020-06-02
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