Lausberg E et al. C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation. J Clin Invest. 2021;131(12):e143078. PMID: 33945503.
Wong H et al. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Am J Hum Genet. 2021;108(7):1301-1317. PMID: 34038740. Note: Erratum: 108(7):1356, 2021.
C2orf69