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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

by Loong, Lucy, Cubuk, Cankut, Garrett, Alice, Loveday, Chey, Durkie, Miranda, Wallace, Andrew, Eccles, Diana M., Tischkowitz, Marc, Ellard, Sian, Ware, James S., Turnbull, Clare, Ansari, A., Kumar, A., Donaldson, A., Brady, A., Hogg, A.-C., Bowden, A. Ramsay, Coad, B., Speight, B., DeSouza, B., Olimpio, C., Clabby, C., Byrne, C., Maurer, C., Baralle, D., Moore, D., Donnelly, D., Atkinson, E., Baple, E., Woodward, E., Petrides, E., McRonald, F., Pelz, F., Rea, G., Powell, H., Carley, H., Thomas, H.J.W., Cook, J., Hoyle, J., Murray, J., Field, J., Burn, J., Bruty, J., Grant, J., Barwell, J., Monahan, K., Tatton-Brown, K., Mokretar, K., Reay, K., Russell, K., Stone, K., Reed, L., Cobbold, L., Busby, L., Izatt, L., Side, L., Sarkies, L., Bartlett, M., Watson, M., Bradford, M., Huxley, M., Ryten, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Hart, R., Martin, R., Nyanhete, R., Wright, R., Davidson, R., Talukdar, S., Butler, S., Ribeiro, S., Daniels, S., Abbs, S., Foo, T., Bedenham, T., Cranston, T., Woodwaer, N., Wallis, Y., Mullan, G., Reuther, A.-M., Lawn, C., Nocera-Jijon, D., Cross, E., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Tadiso, T., Sahan, K., Worrillow, L., Barlett, M., Watt, C.
Published in Genetics in medicine (01.03.2022)

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