Concepedia

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

Brent A. Penque, Leila Su, Jianghai Wang, Weizhen Ji, A. Bale, Frank Luh, Robert K. Fulbright, Uzair Sarmast, Annalisa G. Sega, Monica Konstantino,

European Journal of Medical Genetics · 2018 · 30 citations · 14 references

DOI

Concepts

References

14

Amino‐aromatic interactions in proteins

S.K. Burley, Gregory A. Petsko · FEBS Letters · 1986 · 763 citations

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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

Alice Bourdon, Limor Minai, Valérie Serre et al. · Nature Genetics · 2007 · 525 citations

, , +12

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

Neil Romberg, Khatoun Al Moussawi, Carol Nelson‐Williams et al. · Nature Genetics · 2014 · 510 citations · Full text

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Amino/Aromatic Interactions in Proteins: Is the Evidence Stacked Against Hydrogen Bonding?

John B. O. Mitchell, C. Lilian Nandi, Ian K. McDonald et al. · Journal of Molecular Biology · 1994 · 298 citations

, , +14

Regulation of Mammalian Ribonucleotide Reduction and dNTP Pools after DNA Damage and in Resting Cells

Pelle Håkansson, Anders Hofer, Lars Thelander · Journal of Biological Chemistry · 2006 · 293 citations · Full text

, , +12