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Identification of PLCZ1 bi-allelic mutations in infertile males. (A–D) Pedigrees of four families affected by PLCZ1 bi-allelic mutations. Sequences of mutations were shown below. Black squares indicate the male individuals with PLCZ1 mutations. (E) Variant locations and phylogenic conservation of the affected residuals in the PLCZ1 protein. The NCBI reference number for PLCZ1 protein is NP_149114.2.
