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De novo variants in the PABP domain of PABPC1 lead to developmental delay

Wegler, M; Jia, XB; Alders, M; Bouman, A; Chen, J; Duan, XY; Lauzon, JL; Mathijssen, IB; Sticht, H; Syrbe, S; Tan, SW; Guo, H; Abou Jamra, R

Abou Jamra, R (通讯作者),Univ Med Ctr, Inst Human Genet, Philipp Rosenthal Str 55, D-04103 Leipzig, Germany.;Guo, H (通讯作者),Cent South Univ, Ctr Med Genet, Sch Life Sci, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China.

GENETICS IN MEDICINE, 2022; 24 (8): 1761

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