Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency.
Benavides-Nieto M, Adam F, Martin E, Boussard C, Lagresle-Peyrou C, Callebaut I, Kauskot A, Repérant C, Feng M, Bordet JC, Castelle M, Morelle G, Brouzes C, Zarhrate M, Panikulam P, Lambert N, Picard C, Bodet D, Rouger-Gaudichon J, Revy P, de Villartay JP, Moshous D.
Benavides-Nieto M, et al. Among authors: morelle g.
J Clin Invest. 2024 Jul 11;134(17):e169994. doi: 10.1172/JCI169994.
J Clin Invest. 2024.
PMID: 39225097
Free PMC article.