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

Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Yarali, Nese


BibTeX

@article{wong_hui_hui_2021_237718,
  author       = {Wong, Hui Hui and
                  Seet, Sze Hwee and
                  Maier, Michael and
                  Gurel, Ayse and
                  Traspas, Ricardo Moreno and
                  Lee, Cheryl and
                  Zhang, Shan and
                  Talim, Beril and
                  Loh, Abigail Y. T. and
                  Chia, Crystal Y. and
                  Teoh, Tze Shin and
                  Sng, Danielle and
                  Rensvold, Jarred and
                  Unal, Sule and
                  Shishkova, Evgenia and
                  Cepni, Ece and
                  Nathan, Fatima M. and
                  Sirota, Fernanda L. and
                  Liang, Chao and
                  Yarali, Nese and
                  Yarali, Nese},
  title        = {{Loss of C2orf69 defines a fatal autoinflammatory 
                   syndrome in humans and zebrafish that evokes a
                   glycogen-storage-associated mitochondriopathy}},
  journal      = {AMERICAN JOURNAL OF HUMAN GENETICS},
  year         = 2021,
  volume       = 108,
  number       = 7,
  pages        = {1301-1317},
  month        = jan,
}
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