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Splicing Abnormalities Caused by a Novel Mutation in the PHKA2 Gene in Children with Glycogen Storage Disease Type IX

Z H Zhang,B X Zheng,Y J Zhuo,Y Jin,Z F Liu,Y C Zheng

PubMed（2023）

引用 0|浏览22
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关键词
Glycogen storage disease type IX,PHKA2 gene,Next-generation panel sequencing,Aberrant RNA splicing
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