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Senum SR, Li YSM, Benson KA, et al. Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. Am J Hum Genet. 2021;109(1):136-156doi: 10.1016/j.ajhg.2021.11.016.
Senum, S. R., Li, Y. S. M., Benson, K. A., Joli, G., Olinger, E., Lavu, S., Madsen, C. D., Gregory, A. V., Neatu, R., Kline, T. L., Audrézet, M. P., Outeda, P., Nau, C. B., Meijer, E., Ali, H., Steinman, T. I., Mrug, M., Phelan, P. J., Watnick, T. J., Peters, D. J. M., Ong, A. C. M., Conlon, P. J., Perrone, R. D., Cornec-Le Gall, E., Hogan, M. C., Torres, V. E., Sayer, J. A., & Harris, P. C. (2022). Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. American journal of human genetics, 109(1), 136-156. https://doi.org/10.1016/j.ajhg.2021.11.016
Senum, Sarah R, et al. "Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype." American journal of human genetics vol. 109,1 (2022): 136-156. doi: https://doi.org/10.1016/j.ajhg.2021.11.016
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA, Harris PC. Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. Am J Hum Genet. 2022 Jan 06;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 09. PMID: 34890546.
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