All individuals with variants in gene SMN1

55 entries on 1 page. Showing entries 1 - 55.
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AscendingIndividual ID     

Reference     

Ethnic origin     

Remarks     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00004301 Parsons DW1, McAndrew PE, Monani UR, Mendell JR, Burghes AH, Prior TW.(1996) - - SMA - 1 1 Y Yang
00004302 Hahnen E1, Sch?nling J, Rudnik-Sch?neborn S, Raschke H, Zerres K, Wirth B.(1997) - - SMA - 1 1 Y Yang
00004303 Hahnen E1, Sch?nling J, Rudnik-Sch?neborn S, Raschke H, Zerres K, Wirth B.(1997) - - SMA - 1 1 Y Yang
00004304 Lefebvre S1, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al.(1995) - - SMA - 1 1 Y Yang
00004305 Talbot K1, Ponting CP, Theodosiou AM, Rodrigues NR, Surtees R, Mountford R, Davies KE.(1997) - - SMA - 1 1 Y Yang
00004306 Parsons DW1, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW.(1998) - - SMA - 1 1 Y Yang
00004307 Lorson CL1, Hahnen E, Androphy EJ, Wirth B.(1999) - - SMA - 1 1 Y Yang
00004308 Sossi V1, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C.(2001) - - SMA - 1 1 Y Yang
00004309 Sossi V1, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C.(2001) - - SMA - 1 1 Y Yang
00004310 Bussaglia E1, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, et al.(1995) - - SMA - 1 1 Y Yang
00004311 Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - SMA - 1 1 Y Yang
00004312 Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - SMA - 1 1 Y Yang
00004313 Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - SMA - 1 1 Y Yang
00004314 Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - SMA - 1 1 Y Yang
00004315 Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - SMA - 1 1 Y Yang
00004316 Cuscó I1, Barceló MJ, del Río E, Baiget M, Tizzano EF.(2004) - - SMA - 1 1 Y Yang
00004317 Cuscó I1, Barceló MJ, del Río E, Baiget M, Tizzano EF.(2004) - - SMA - 1 1 Y Yang
00004318 Qu YJ1, Song F, Yang YL, Jin YW, Bai JL.(2011) - - SMA - 1 1 Y Yang
00004350 Cuscó I1, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF.(2003) - - SMA - 1 1 Y Yang
00004354 Zeng J1, Lin Y, Yan A, Ke L, Zhu Z, Lan F.(2011) - - SMA - 1 1 Y Yang
00004355 Zeng J1, Lin Y, Yan A, Ke L, Zhu Z, Lan F.(2011) - - SMA - 1 1 Y Yang
00004356 Zeng J1, Lin Y, Yan A, Ke L, Zhu Z, Lan F.(2011) - - SMA - 1 1 Y Yang
00004357 Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - SMA - 1 1 Y Yang
00004358 Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - SMA - 1 1 Y Yang
00004359 Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - SMA - 1 1 Y Yang
00004360 Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - SMA - 1 1 Y Yang
00004361 Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - SMA - 1 1 Y Yang
00004362 Yamamoto T1, Sato H2, Lai PS3, Nurputra DK2, Harahap NI2, Morikawa S1, Nishimura N1, Kurashige T4, Ohshita T4, Nakajima H5, Yamada H6, Nishida Y6,(2014) - - SMA - 1 1 Y Yang
00004363 Yamamoto T1, Sato H2, Lai PS3, Nurputra DK2, Harahap NI2, Morikawa S1, Nishimura N1, Kurashige T4, Ohshita T4, Nakajima H5, Yamada H6, Nishida Y6,(2014) - - SMA - 1 1 Y Yang
00004364 Yamamoto T1, Sato H2, Lai PS3, Nurputra DK2, Harahap NI2, Morikawa S1, Nishimura N1, Kurashige T4, Ohshita T4, Nakajima H5, Yamada H6, Nishida Y6,(2014) - - SMA - 1 1 Y Yang
00004365 Kirwin SM1, Vinette KM1, Gonzalez IL1, Abdulwahed HA2, Al-Sannaa N2, Funanage VL1.(2013) - - SMA - 1 1 Y Yang
00004366 Kirwin SM1, Vinette KM1, Gonzalez IL1, Abdulwahed HA2, Al-Sannaa N2, Funanage VL1.(2013) - - SMA - 1 1 Y Yang
00004367 J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - SMA - 1 1 Y Yang
00004368 J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - SMA - 1 1 Y Yang
00004369 J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - SMA - 1 1 Y Yang
00004370 J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - SMA - 1 1 Y Yang
00004371 J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - SMA - 1 1 Y Yang
00004372 J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - SMA - 1 1 Y Yang
00004373 Ganji H1, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M.(2014) - - SMA - 1 1 Y Yang
00004374 Ganji H1, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M.(2014) - - SMA - 1 1 Y Yang
00004375 Ganji H1, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M.(2014) - - SMA - 1 1 Y Yang
00004376 Liu WL1, Li F, He ZX, Ai R, Ma HW.(2013) China - SMA - 1 1 Y Yang
00004377 DU J1, Qu YJ, Xiong H, Li EZ, Jin YW, Bai JL, Wang H, Song F.(2011) - - SMA - 1 1 Y Yang
00004378 DU J1, Qu YJ, Xiong H, Li EZ, Jin YW, Bai JL, Wang H, Song F.(2011) - - SMA - 1 1 Y Yang
00005853 Bai JL et al. (2014) Chinese - SMA - 1 1 XY Liu
00005854 Bai JL et al. (2014) Chinese - SMA - 1 1 XY Liu
00005855 Bai JL et al. (2014) Chinese - SMA - 1 1 XY Liu
00005856 Bai JL et al. (2014) Chinese - SMA - 1 1 XY Liu
00005857 Bai JL et al. (2014) Chinese - SMA - 1 1 XY Liu
00005858 Bai JL et al. (2014) Chinese - SMA - 1 1 XY Liu
00005859 Qu YJ et al. (2016) - - SMA - 1 1 XY Liu
00005860 Giannopoulou EZ et al. (2015) - - SMA - 1 1 XY Liu
00005863 Rudnik-Schöneborn S et al.(2016) - - SMA - 1 1 XY Liu
00005864 Takarada T et al. (2017) - - SMA - 1 1 XY Liu
00005865 Takarada T et al. (2017) - - SMA - 1 1 XY Liu
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