Siew Chin Choo

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy.

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, American journal of human genetics.

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, medRxiv.