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202Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotypeby Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, Catherina H. Z., Heaton, Robert A., Reurink, Janine, Bellingham, James, Quinodoz, Mathieu, Yioti, Georgia, Stefaniotou, Maria, Weener, Marianna, Zuleger, Theresia, Haack, Tobias B., Stingl, Katarina, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Hoyng, Carel B., Mahroo, Omar A., Hargreaves, Iain, Raymond, F. Lucy, Michaelides, Michel, Rivolta, Carlo, Kohl, Susanne, Roosing, Susanne, Webster, Andrew R., Arno, GavinGet full text
Published in Npj genomic medicine
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205by Wickham, Louisa, Chen, Fred K, Lewis, Geoffrey P, Uppal, Germit S, Neveu, Magella M, Wright, Genevieve A, Robson, Anthony G, Webster, Andrew R, Grierson, Iain, Hiscott, Paul, Coffey, Peter J, Holder, Graham E, Fisher, Steven K, Da Cruz, LyndonGet full text
Published in Investigative ophthalmology & visual science
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209by Sergouniotis, Panagiotis I., Davidson, Alice E., Mackay, Donna S., Lenassi, Eva, Li, Zheng, Robson, Anthony G., Yang, Xu, Kam, Jaimie Hoh, Isaacs, Timothy W., Holder, Graham E., Jeffery, Glen, Beck, Jonathan A., Moore, Anthony T., Plagnol, Vincent, Webster, Andrew R.Get full text
Published in American journal of human genetics
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214by Friedman, James S., Ray, Joseph W., Waseem, Naushin, Johnson, Kory, Brooks, Matthew J., Hugosson, Therése, Breuer, Debra, Branham, Kari E., Krauth, Daniel S., Bowne, Sara J., Sullivan, Lori S., Ponjavic, Vesna, Gränse, Lotta, Khanna, Ritu, Trager, Edward H., Gieser, Linn M., Hughbanks-Wheaton, Dianna, Cojocaru, Radu I., Ghiasvand, Noor M., Chakarova, Christina F., Abrahamson, Magnus, Göring, Harald H.H., Webster, Andrew R., Birch, David G., Abecasis, Goncalo R., Fann, Yang, Bhattacharya, Shomi S., Daiger, Stephen P., Heckenlively, John R., Andréasson, Sten, Swaroop, AnandGet full text
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