Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
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Published:2021-07
Issue:7
Volume:108
Page:1301-1317
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ISSN:0002-9297
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Container-title:The American Journal of Human Genetics
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language:en
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Short-container-title:The American Journal of Human Genetics
Author:
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, Simsek-Kiper Pelin O., Mitani Tadahiro, Ceylaner Serdar, Arman-Bilir Ozlem, Mbarek Hamdi, Gumruk Fatma, Efthymiou Stephanie, Uğurlu Çi̇men Deniz, Georgiadou Danai, Sotiropoulou Kortessa, Houlden Henry, Paul Franziska, Pehlivan Davut, Lainé Candice, Chai Guoliang, Ali Nur Ain, Choo Siew Chin, Keng Soh Sok, Boisson Bertrand, Yılmaz Elanur, Xue Shifeng, Coon Joshua J., Ly Thanh Thao Nguyen, Gilani Naser, Hasbini Dana, Kayserili Hulya, Zaki Maha S., Isfort Robert J., Ordonez Natalia, Tripolszki Kornelia, Bauer Peter, Rezaei Nima, Seyedpour Simin, Khotaei Ghamar Taj, Bascom Charles C., Maroofian Reza, Chaabouni Myriam, Alsubhi Afaf, Eyaid Wafaa, Işıkay Sedat, Gleeson Joseph G., Lupski James R., Casanova Jean-Laurent, Pagliarini David J., Akarsu Nurten A., Maurer-Stroh Sebastian, Cetinkaya Arda, Bertoli-Avella Aida, Mathuru Ajay S., Ho Lena, Bard Frederic A., Reversade BrunoORCID
Funder
National Medical Research Council Howard Hughes Medical Institute The Rockefeller University Government of Singapore Ministry of Education St Giles Foundation INSERM National Research Foundation of Singapore Muscular Dystrophy Association Procter & Gamble A*STAR Uehara Memorial Foundation International Rett Syndrome Foundation National Human Genome Research Institute National Institute of Neurological Disorders and Stroke
Subject
Genetics (clinical),Genetics
Cited by
15 articles.
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