Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita

Daphna Nachmani, Anne Bothmer, Silvia Grisendi, Aldo Mele, Dietmar Bothmer, Jonathan D. Lee, Emanuele Monteleone, Ke Cheng, Yang Zhang, Assaf C. Bester,

Nature Genetics · 2019 · 133 citations · 47 references

Concepts

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