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Updated: May 13, 2025

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
07:31

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

Published on: June 30, 2022

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引发DICER1综合征与多发性肺母细胞瘤的因子

Rujin Tian1, Yixiao Li1,2, Lin Zhong1

  • 1Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China.

Human mutation
|April 14, 2025
PubMed
概括

DICER1综合征是一种罕见的遗传性瘤疾病,被诊断为患有多发性肺母细胞瘤的婴儿,原因是新的DICER1基因突变. 这一发现扩大了对DICER1相关疾病的理解,并有助于遗传咨询.

关键词:
在 DICER1 基因中,这就是DICER1综合征.迷你基因拼接试验pleuropulmonary 囊原体瘤 是一个多发性肺细胞瘤.

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