All individuals with variants in gene SETX

10 entries on 1 page. Showing entries 1 - 10.
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AscendingIndividual ID     

Reference     

Ethnic origin     

Remarks     

Disease     

Phenotype details     

Variants     

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Owner     
00000580 "Chen YZ1, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW(2004) - - ALS Juvenile amyotrophic lateral sclerosis 1 1 Y Yang
00000581 "Chen YZ1, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW(2004) - - ALS Juvenile amyotrophic lateral sclerosis 1 1 Y Yang
00006373 Francesca Avemaria, Christian Lunetta, Claudia Tarlarini, Lorena Mosca, Eleonora Maestri, Alessandro Marocchi, Mario Melazzini, Silvana Penco, Massimo Corbo (2011) Italian - ALS We report an Italian male with juvenile onset familial disease characterized by progressive weakness and wasting of four limbs and prolonged survival. Diagnostic work-up revealed the diffuse involvement of central and peripheral motor neurons. 1 1 XY Liu
00006483 Kornélia Tripolszki, et al. (2017) Hungarian - ALS - 1 1 XY Liu
00006503 Takaki Taniguchi, et al. (2017) - - ALS - 1 1 XY Liu
00006531 Limin Ma,et al. (2018) - - ALS - 1 1 XY Liu
00006561 Christopher Grunseich, et al. (2020) - - ALS - 1 1 XY Liu
00006562 Christopher Grunseich, et al. (2020) - - ALS - 1 1 XY Liu
00006568 I Andreini, et al. (2020) - - ALS - 1 1 XY Liu
00006589 Lin Lei, et al. (2021) Chinese - ALS - 1 1 XY Liu
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