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Germline GATA1 exon 2 mutation associated with chronic cytopenia and a non-down syndrome transient abnormal myelopoiesis with clonal trisomy 21

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Fig. 1: Inheritance and pathogenic effect of germline GATA1 c.94delG mutation.


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This work was supported by Fundação de Ensino e Pesquisa em Ciências da Saúde (FEPECS), Distrito Federal, Brazil. The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

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IQM supervised the study, RC, SSS performed the research and wrote the manuscript, and JCC and IQM were involved in the clinical care of the patients.

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Correspondence to Isis Quezado Magalhães.

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Camargo, R., Sahoo, S.S., Córdoba, J.C. et al. Germline GATA1 exon 2 mutation associated with chronic cytopenia and a non-down syndrome transient abnormal myelopoiesis with clonal trisomy 21. Leukemia 36, 2347–2350 (2022).

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