A homozygous variant in RRM2B is associated with severe...

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  • A homozygous variant in RRM2B is associated with severe...
European Journal of Medical Genetics 2018 / 11

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

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, Richar
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Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2018.11.008
Date:
November, 2018
File:
PDF, 1.48 MB
english, 2018
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