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    Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants

    Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants by Xicui Long, Wenyu Xiong, Xuegang Wang, Jia Geng, Mingjun Zhong, Yu Huang, Man Liu, Fengxiao Bu, Jing Cheng, Yu Lu, Huijun Yuan

    Published 2024
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