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2021•Journal of Assisted Reproduction and GeneticsOpen access

A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome

Mengmeng Lu, Shuai Kong, Mingfei Xiang, Yu Wang, Jingjing Zhang, Zongliu Duan, Xiaomin Zha, Fengsong Wang, Yunxia Cao, Fuxi Zhu

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Key concepts: Missense mutation, Sanger sequencing, Biology, Mutation, Mutant, Genetics, Human genetics, Genetic counseling

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A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome — Research Paper | ScholarLens