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Pedigrees of two Chinese families with a C12orf40 mutation. The double horizontal lines indicate the consanguineous marriage. Squares and circles denote male and female members, respectively. Solid symbols indicate the members with nonobstructive azoospermia. Members indicated by arrows were selected for WES. Sanger sequencing chromatograms of C12orf40 are shown at the bottom. The 2-bp insertion in C12orf40 is marked in red.

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