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. 2021 Apr 6;14:1311–1317. doi: 10.2147/IDR.S305825

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© 2021 Shen et al.

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Distribution of GATA2 germline mutation sites in MonoMAC syndrome. Various site of GATA germline mutation had been reported, mostly in exon 6 (45%) and exon7 (32%), and some in exon 4 (14%) and exon 5 (9%).