Rare (Amsterdam, Netherlands)
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Blue, E. E., Huang, S. J., Khan, A., Golden-Grant, K., Boyd, B., Rosenthal, E. A., Gillentine, M. A., Fleming, L. R., Adams, D. R., Wolfe, L., Allworth, A., Bamshad, M. J., Caruana, N. J., Chanprasert, S., Chen, J., Dargie, N., Doherty, D., Friederich, M. W., Hisama, F. M., … Glass, I. A. (2024). Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts. Rare, 2, 100040. https://doi.org/10.1016/j.rare.2024.100040
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Columbia Affiliation