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(c.1194delAp.L400Cfs*7) had been identified into the siblings with infertility. PAS, IHC and meiotic chromosomal spread analyses demonstrated that the spermatogenesis was arrested at zygotene stage in the three clients with NOA. In line with the autosomal recessive mode of inheritance, many of these variations were passed down from heterozygous parental carriers. Intriguingly, WES of 362 sporadic NOA instances revealed one extra NOA situation with a bi-alleli
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