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

Document Type

Article

Author

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.

Source

In European Journal of Medical Genetics November 2019 62(11)

Subject

Language

ISSN

1769-7212

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

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