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Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, Wang K, Xu M, Rajan L, Motta FL, Simões RT, Lopez-Solache I, Ajlan R, Birch DG, Zhao P, Porto FB, Sallum J, Koenekoop RK, Sui R, Chen R. Soens ZT, et al. Among authors: simoes rt. Hum Mutat. 2017 Nov;38(11):1521-1533. doi: 10.1002/humu.23294. Epub 2017 Aug 18. Hum Mutat. 2017. PMID: 28714225 Free PMC article.
HLA-G Ins/Del polymorphism and +3142C/G SNP are not related to neuromyelitis optica spectrum disorder (NMOSD) development, disability status or anti-aquaporin 4 presence in Brazilian patients.
Gomes NA, Silva PC, Teixeira YT, Eufrazio P, Souza AD, Rojas H, Brant R, Gomes Neto A, Christo PP, Simões RT, Fernandes KS. Gomes NA, et al. Among authors: simoes rt. J Neuroimmunol. 2020 Feb 15;339:577112. doi: 10.1016/j.jneuroim.2019.577112. Epub 2019 Nov 14. J Neuroimmunol. 2020. PMID: 31765953
42 results