Modomics - A Database of RNA Modifications

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

Anne H Bothmer,Silvia Grisendi,Aldo Mele,Dietmar Bothmer,Jonathan D Lee,Emanuele Monteleone,Ke Cheng,Yang Zhang,Assaf C Bester,Alison Guzzetti,Caitlin A Mitchell,Lourdes M Mendez,Olga Pozdnyakova,Paolo Sportoletti,Maria-Paola Martelli,Tom J Vulliamy,Modi Safra,Schraga Schwartz,Lucio Luzzatto,Olivier Bluteau,Jean Soulier,Robert B Darnell,Brunangelo Falini,Inderjeet Dokal,Keisuke Ito,John G Clohessy,

Published on Sept. 30, 2019 in Nat Genet volume 51(10).

PubMed ID: 31570891

DOI: 10.1038/s41588-019-0502-z