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Ravel JM, Dreumont N, Mosca P, et al. A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever. Hum Mutat. 2021;42(12):1576-1583doi: 10.1002/humu.24285.
Ravel, J. M., Dreumont, N., Mosca, P., Smith, D. E. C., Mendes, M. I., Wiedemann, A., Coelho, D., Schmitt, E., Rivière, J. B., Tran Mau-Them, F., Thevenon, J., Kuentz, P., Polivka, M., Fuchs, S. A., Kok, G., Thauvin-Robinet, C., Guéant, J. L., Salomons, G. S., Faivre, L., & Feillet, F. (2021). A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever. Human mutation, 42(12), 1576-1583. https://doi.org/10.1002/humu.24285
Ravel, Jean-Marie, et al. "A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever." Human mutation vol. 42,12 (2021): 1576-1583. doi: https://doi.org/10.1002/humu.24285
Ravel JM, Dreumont N, Mosca P, Smith DEC, Mendes MI, Wiedemann A, Coelho D, Schmitt E, Rivière JB, Tran Mau-Them F, Thevenon J, Kuentz P, Polivka M, Fuchs SA, Kok G, Thauvin-Robinet C, Guéant JL, Salomons GS, Faivre L, Feillet F. A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever. Hum Mutat. 2021 Dec;42(12):1576-1583. doi: 10.1002/humu.24285. Epub 2021 Oct 04. PMID: 34570399.
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