Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
Conte MI, Poli MC, Taglialatela A, Leuzzi G, Chinn IK, Salinas SA, Rey-Jurado E, Olivares N, Veramendi-Espinoza L, Ciccia A, Lupski JR, Aldave Becerra JC, Mace EM, Orange JS.
Conte MI, et al. Among authors: mace em.
JCI Insight. 2022 Nov 8;7(21):e154948. doi: 10.1172/jci.insight.154948.
JCI Insight. 2022.
PMID: 36345943
Free PMC article.