A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death

Brent A. Penque, Leila Su, Jianghai Wang, Weizhen Ji, Allen Bale, Frank Luh, Robert K. Fulbright, Uzair Sarmast, Annalisa G. Sega, Monica Konstantino, Michele Spencer-Manzon, Richard Pierce, Yun Yen, Saquib A. Lakhani

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Medicine & Life Sciences