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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. 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.
Birdshot retinochoroiditis in Brazil: a multicenter review of 40 patients.
da Fonsêca MLG, Vianna RNG, Rocha ACH, Casella AMB, Cialdini A, Muccioli C, da Costa DS, Lucena DR, Vasconcelos-Santos DV, Morizot E, Castro E, Rodriguez EEC, Diligenti FT, Porto FBO, Nascimento H, Yanamoto JH, Oréfice JL, Muralha LRP, Carneiro LB, Finamor LPS, Frazão MAM, Motta M, Nobrega MJ, Zajdenweber ME, Moraes RT, Meirelles RL, Lemos SR, de Araújo WF. da Fonsêca MLG, et al. Among authors: porto fbo. Int J Retina Vitreous. 2022 Jan 7;8(1):5. doi: 10.1186/s40942-021-00353-1. Int J Retina Vitreous. 2022. PMID: 34996521 Free PMC article.
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