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A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability.
Clinical dysmorphology Pub Date : 2022-01-01 , DOI: 10.1097/mcd.0000000000000392
Elif Nurdan Özmansur 1 , Yakup Pedük 2 , Hakan Gümüş 2 , Ahmet Okay Çağlayan 3 , Hüseyin Per 2
Affiliation  



中文翻译:

在患有智力障碍的兄弟姐妹中发现了 TUSC3 基因中的一种新的纯合移码突变。

更新日期:2021-09-17
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