All individuals with variants in gene THAP1

22 entries on 1 page. Showing entries 1 - 22.
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AscendingIndividual ID     
Reference     
Ethnic origin     
Remarks     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00001100 "Djarmati A1, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Rakovi? A, Schmidt A, Jabusch HC, Wilcox R, Kosti? VS, Siebner H(2009) - - DMD - 1 1 Y Yang
00001101 "Djarmati A1, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Rakovi? A, Schmidt A, Jabusch HC, Wilcox R, Kosti? VS, Siebner H(2009) - - DMD - 1 1 Y Yang
00001102 Bressman SB1, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R.(2009) - - DMD - 1 1 Y Yang
00001103 Fuchs T1, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ.(2009) - - DMD - 1 1 Y Yang
00001104 Fuchs T1, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ.(2009) - - DMD - 1 1 Y Yang
00001105 Bressman SB1, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R.(2009) - - DMD - 1 1 Y Yang
00001106 "Xiao J1, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP(2010) - - DMD - 1 1 Y Yang
00001174 Cheng FB1, Wan XH, Feng JC, Wang L, Yang YM, Cui LY.(2011) - - DMD - 1 1 Y Yang
00001175 Cheng FB1, Wan XH, Feng JC, Wang L, Yang YM, Cui LY.(2011) - - DMD - 1 1 Y Yang
00001176 Schneider SA1, Ramirez A, Shafiee K, Kaiser FJ, Erogullari A, Brüggemann N, Winkler S, Bahman I, Osmanovic A, Shafa MA, Bhatia KP, Najmabadi H, Klein C, Lohmann K.(2011) - - DMD - 1 1 Y Yang
00001177 Song W1, Chen Y, Huang R, Chen K, Pan P, Yang Y, Shang HF.(2011) southwest China - DMD - 1 1 Y Yang
00001178 Song W1, Chen Y, Huang R, Chen K, Pan P, Yang Y, Shang HF.(2011) southwest China - DMD - 1 1 Y Yang
00001179 Song W1, Chen Y, Huang R, Chen K, Pan P, Yang Y, Shang HF.(2011) southwest China - DMD - 1 1 Y Yang
00001180 Camargo CH1, Camargos ST2, Raskin S3, Cardoso FE2, Teive HA4.(2014) - - DMD - 1 1 Y Yang
00001181 Cheng FB1, Feng JC, Ma LY, Miao J, Ott T, Wan XH, Grundmann K.(2014) - - DMD - 1 1 Y Yang
00001194 "Erogullari A1, Hollstein R1, Seibler P2, Braunholz D1, Koschmidder E2, Depping R3, Eckhold J4, Lohnau T2, Gillessen-Kaesbach G5, Grünewald A2, Rakovic A2, Lohmann K6(2014) - - DMD - 1 1 Y Yang
00001195 "Erogullari A1, Hollstein R1, Seibler P2, Braunholz D1, Koschmidder E2, Depping R3, Eckhold J4, Lohnau T2, Gillessen-Kaesbach G5, Grünewald A2, Rakovic A2, Lohmann K6(2014) - - DMD - 1 1 Y Yang
00001196 Jurek M1, Hoffman-Zacharska D2, Koziorowski D3, M?dry J3, Friedman A3, Bal J2.(2014) - - DMD - 1 1 Y Yang
00001197 Gajos A1, Golańska E, Sieruta M, Szybka M, Liberski PP, Bogucki A.(2014) - - DMD - 1 1 Y Yang
00005449 Golanska E et al. (2015) - - DMD - 1 1 XY Liu
00005450 Golanska E et al. (2015) - - DMD - 1 1 XY Liu
00005451 Golanska E et al. (2015) - - DMD - 1 1 XY Liu
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