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Article

Novel biallelic mutations in PADI6 in patients with early embryonic arrest.

Journal of human genetics - 1 May 2022

Dong Jie, Fu Jing, Yan Zheng, Li Lin, Qiu Ying, Zeng Yang, Liu Ruyi, Chen Biaobang, Shi Rong, Diao Feiyang, Wang Lei, Shi Qiuwen, Sang Qing

Abstract excerpt

Peptidyl arginine deiminase, type VI (PADI6) is a member of the subcortical maternal complex (SCMC), which plays vital roles in mammalian embryogenesis. Most mutations in SCMC members have been reported to cause human embryonic arrest, and a total of 15 mutations in PADI6 have been shown to be responsible for early embryonic arrest according to previous studies. However, the genetic factors behind this phenotype...

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PMID: 34987164
DOI: 10.1038/s10038-021-00998-8

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