A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
Titel:
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
Auteur:
Penque, Brent A. Su, Leila Wang, Jianghai Ji, Weizhen Bale, Allen Luh, Frank Fulbright, Robert K. Sarmast, Uzair Sega, Annalisa G. Konstantino, Monica Spencer-Manzon, Michele Pierce, Richard Yen, Yun Lakhani, Saquib A.