학술논문

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
Document Type
Article
Author
Loong, L.Cubuk, C.Choi, S.Allen, S.Torr, B.Garrett, A.Loveday, C.Hanson, H.Turnbull, C.Durkie, M.Callaway, A.Burghel, G.J.Wallace, A.Drummond, J.Robinson, R.Berry, I.R.Eccles, D.M.Tischkowitz, M.Ellard, S.Ware, J.S.Samant, S.Lucassen, A.Znaczko, A.Shaw, A.Ansari, A.Kumar, A.Donaldson, A.Murray, A.Ross, A.Taylor-Beadling, A.Taylor, A.Innes, A.Brady, A.Kulkarni, A.Hogg, A.-C.Bowden, A.R.Hadonou, A.Coad, B.McIldowie, B.Speight, B.DeSouza, B.Mullaney, B.McKenna, C.Brewer, C.Olimpio, C.Clabby, C.Crosby, C.Jenkins, C.Armstrong, C.Bowles, C.Brooks, C.Byrne, C.Maurer, C.Baralle, D.Chubb, D.Stobo, D.Moore, D.O'Sullivan, D.Donnelly, D.Randhawa, D.Halliday, D.Atkinson, E.Baple, E.Rauter, E.Johnston, E.Woodward, E.Maher, E.Sofianopoulou, E.Petrides, E.Lalloo, F.McRonald, F.Pelz, F.Frayling, I.Evans, G.Corbett, G.Rea, G.Clouston, H.Powell, H.Williamson, H.Carley, H.Thomas, H.J.W.Tomlinson, I.Cook, J.Hoyle, J.Tellez, J.Whitworth, J.Williams, J.Murray, J.Campbell, J.Tolmie, J.Field, J.Mason, J.Burn, J.Bruty, J.Callaway, J.Grant, J.Del Rey Jimenez, J.Pagan, J.VanCampen, J.Barwell, J.Monahan, K.Tatton-Brown, K.Ong, K.-R.Murphy, K.Andrews, K.Mokretar, K.Cadoo, K.Smith, K.Baker, K.Brown, K.Reay, K.McKay Bounford, K.Bradshaw, K.Russell, K.Stone, K.Snape, K.Crookes, L.Reed, L.Taggart, L.Yarram, L.Cobbold, L.Walker, L.Hawkes, L.Busby, L.Izatt, L.Kiely, L.Hughes, L.Side, L.Sarkies, L.Greenhalgh, K.-L.Shanmugasundaram, M.Duff, M.Bartlett, M.Watson, M.Owens, M.Bradford, M.Huxley, M.Slean, M.Ryten, M.Smith, M.Ahmed, M.Roberts, N.O'Brien, C.Middleton, O.Tarpey, P.Logan, P.Dean, P.May, P.Brace, P.Tredwell, R.Harrison, R.Hart, R.Kirk, R.Martin, R.Nyanhete, R.Wright, R.Davidson, R.Cleaver, R.Talukdar, S.Butler, S.Sampson, J.Ribeiro, S.Dell, S.Mackenzie, S.Hegarty, S.Albaba, S.McKee, S.Palmer-Smith, S.Heggarty, S.MacParland, S.Greville-Heygate, S.Daniels, S.Prapa, S.Abbs, S.Tennant, S.Hardy, S.MacMahon, S.McVeigh, T.Foo, T.Bedenham, T.Cranston, T.McDevitt, T.Clowes, V.Tripathi, V.McConnell, V.Woodwaer, N.Wallis, Y.Kemp, Z.Mullan, G.Pierson, L.Rainey, L.Joyce, C.Timbs, A.Reuther, A.-M.Frugtniet, B.Husher, C.Lawn, C.Corbett, C.Nocera-Jijon, D.Reay, D.Cross, E.Ryan, F.Lindsay, H.Oliver, J.Dring, J.Spiers, J.Harper, J.Ciucias, K.Connolly, L.Tsang, M.Brown, R.Shepherd, S.Begum, S.Tadiso, T.Linton-Willoughby, T.Heppell, H.Sahan, K.Worrillow, L.Allen, Z.Barlett, M.Watt, C.Hegarty, M.
Source
In: Genetics in Medicine. (Genetics in Medicine, March 2022, 24(3):552-563)
Subject
Language
English
ISSN
15300366
10983600