GATA2 Mutated Allele Specific Expression Is Associated with a Hyporesponsive State of HSC in GATA2 Deficiency Syndrome

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To elucidate how GATA2 germline mutations mutations affect hematopoietic homeostasis, researchers created a knock-in mouse model expressing the recurrent Gata2 R396Q missense mutation.
[Blood Cancer Journal]
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