Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD. Tu C, Nie H, Meng L, Wang W, Li H, Yuan S, Cheng D, He W, Liu G, Du J, Gong F, Lu G, Lin G, Zhang Q, Tan YQ.Hum Genet. 2020 Feb;139(2):257-271. doi: 10.1007/s00439-020-02110-0. Epub 2020 Jan 16.
Pre One:Yang X, Li D, Tu C, He W, Meng L, Tan YQ, Lu G, Du J, Zhang Q. Novel variants of the PCCB gene in Chinese patients with propionic acidemia. Clin Chim Acta. 2021 Aug;519:18-25. doi: 10.1016/j.cca.2021.03.019. Epub 2021 Mar 31. PMID: 33798502.
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