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Non‐obstructive azoospermia (NOA) is the most severe form of male infertility, and it is primarily associated with genetic defects. We performed whole‐exome sequencing of 236 patients with NOA and identified a homozygous pathogenic variant of autophagy‐related 4D cysteine peptidase (ATG4D) in two siblings from a consanguineous family and compound heterozygous pathogenic variants of ATG4D in two sporadic...
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