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Published in The journal of clinical endocrinology and metabolism (01.08.2023)
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PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report
Tao, DongYing, Zhang, HuiQin, Yang, Jingmin, Niu, HuanHong, Zhang, JingJing, Zeng, Minghua, Cheng, ShengQuan
Published in Frontiers in pediatrics (01.01.2022)
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ZHANG JIAHAO, ZHANG XIAO, SUN XUFANG, CHENG SHENGQUAN, LIANG ZIHAN, LIU YUTING, LIU CHANG, SUI LINYU, FENG JUNJIE
Year of Publication 20.08.2024
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Year of Publication 20.08.2024
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