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E. DeCurtis

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Open access Oct 2026

Characterization of an immunodeficiency-associated EZH2 variant

Epigenetic gene regulation is central to the development and function of immune cells. For example, B cell differentiation and function require high levels of EZH2, the catalytic subunit of epigenetic regulator Polycomb Repressive Complex 2 (PRC2). Our clinical evaluation identified two sisters with adult-onset recur...

Francisco J. Pérez-de Los Santos, L. Beck, E. DeCurtis et al. · 0 citations

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