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variant mutation database tsc 1 tsc 1 variants genetic disease tsc 2 variants substitution research laboratory wild-type variation analysis wild-type tsc 1 signal project change university study effect genet tsc 2 wild-type tsc 1–tsc population acid substitutions figure collection information country health medicine genome department phenotype t 389/s ratio individual sclerosis tuberou protein genomic l 117p variants effort tsc 1 function table 2008. tuberous sclerosis nellist 1–tsc patient variome project activity variome function group system sequence l 50p center ratio assessment region institute missense tsc 2 lovd result number 389/ standard access disorder cotton cancer phosphorylation assay van den ouweland quality australia mutat page number
4 Most Recent Publications
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Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex
(Article)
Hoogeveen-Westerveld, M. Wentink, M. Bergoffen, J. Shashi, V. Elmslie, F. Kwiatkowski, D. Sampson, J. Vidales, C. Dzarir, J. Garcia-Planells, J. Dies, K. Maat-Kievit, A.A. Heuvel, D. van den Ouweland, A.M.W. van den Halley, D.J.J. Nellist, M. Mozaffari, E. Ekong, R. Povey, S. Dunnen, J.T. den Metcalfe, K. Vallee, S. Krueger, S. |
2011-04-01
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Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project
(Article)
Cotton, R.G.H. Al Aqeel, A.I. Patrinos, G.P. Qi, M. Ramesar, R.S. Scott, R.J. Sijmons, R.H. Sobrido, M.J. Vihinen, M. Al-Mulla, F. Carrera, P. Claustres, M. Ekong, R. Hyland, V.J. Macrae, F.A. Marafie, M.J. Paalman, M.H. |
2009-12-01
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Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
(Article)
Mozaffari, E. Hoogeveen-Westerveld, M. Kwiatkowski, D. Sampson, J. Ekong, R. Povey, S. Dunnen, J.T. den Ouweland, A.M.W. van den Halley, D.J.J. Nellist, M.D. |
2009-09-11
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Planning the human variome project: The Spain report
(Article)
Kaput, J. Cotton, R.G.H. Bapat, B. Yim, S.H. Yoo, H.S. Bernstein, I.T. Bhak, J. Bleoo, S.L. Blöcer, H. Brenner, S.E. Burn, J. Bustamante, M. Calzone, R. Cambon-Thomsen, A. Hardman, L. Cargill, M. Carrera, P. Cavedon, L. Cho, Y.S. Chung, Y.J. Claustres, M. Cutting, G. Dalgleish, R. Dunnen, J.T. den Diaz, C. Watson, M. Dobrowolski, S. Santos, M.R.N.D. Ekong, R. Flanagan, S.B. Flicek, P. Furukawa, Y. Genuardi, M. Ghang, H. Golubenko, M.V. Greenblatt, M.S. Ageel, A.I.A. Hamosh, A. Hancock, J.M. Hardison, R. Harrison, T.M. Hoffmann, R. Horaitis, R. Howard, H.J. Barash, C.I. Izagirre, N. Jung, J. Al-Aama, J.Y. Kojima, T. Laradi, S. Lee, Y.S. Lee, J.Y. Gil-da-Silva-Lopes, V.L. Macrae, F.A. Maglott, D. Marafie, M.J. Marsh, S. Matsubara, Y. Al-Mulla, F. Messiaen, L.M. Möslein, G. Netea, M.G. Norton, M.L. Oefner, P.J. Oetting, W.S. O'Leary, J.C. Ramirez, A.M.O. de Paalman, M.H. Parboosingh, J. Alonso, S. Patrinos, G.P. Perozzi, G. Phillips, I.R. Povey, S. Prasad, S. Qi, M. Quin, D.J. Ramesar, R.S. Richards, C.S. Savige, J. Aretz, S. Scheible, D.G. Scott, R.J. Seminara, D. Shephard, E.A. Sijmons, R.H. Smith, T.D. Sobrido, M.J. Tanaka, T. Tavtigian, S.V. Taylor, G.R. Auerbach, A.D. Teague, J. Töpel, T. Ullman-Cullere, M. Utsunomiya, J. Kranen, H. van Vihinen, M. Webb, E. Weber, T.K. Yeager, M. Yeom, Y.I. |
2009-04-01
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