Publication:
Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia

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Keywords

Cell Biology, Cell cycle, Immunology, Monogenic diseases, NK cells

Citation

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. Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia. JCI Insight. 2022 Nov 8;7(21):e154948. doi: 10.1172/jci.insight.154948