GeneticsbioRxivPreprint
Discovery and functional analysis of a novel ALPK1 variant causing ROSAH syndrome
Tom Snelling, L. Olory-Garnotel, Isabelle Jéru…·Alban C. Ziegler
The paper identifies a new ALPK1 variant causing ROSAH syndrome and shows it has altered activation by different metabolites, explaining autoinflammatory episodes.
2 citations