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Identification of Novel Deep Intronic PAH Gene Variants in Patients Diagnosed with Phenylketonuria

Xiaohua Jin,Yousheng Yan,Chuan Zhang,Ya Tai,Lisha An,Xinyou Yu,Linlin Zhang,Shengju Hao,Xiaofang Cao,Chenghong Yin,Xu Ma

Human Mutation（2021）

Cited 13|Views21
Key words
deep intronic variation,PAH,phenylketonuria,RNA splicing,whole-genome sequencing
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