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MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
Piñero TA, Soukarieh O, Rolain M, Alvarez K, López-Köstner F, Torrezan GT, Carraro DM, De Oliveira Nascimento IL, Bomfim TF, Machado-Lopes TMB, Freitas JC, Toralles MB, Sandes KA, Rossi BM, Junior SA, Meira J, Dominguez-Valentin M, Møller P, Vaccaro CA, Martins A, Pavicic WH. Piñero TA, et al. Among authors: sandes ka. Fam Cancer. 2020 Oct;19(4):323-336. doi: 10.1007/s10689-020-00182-5. Fam Cancer. 2020. PMID: 32363481
BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome.
Ewald IP, Cossio SL, Palmero EI, Pinheiro M, Nascimento IL, Machado TM, Sandes KA, Toralles B, Garicochea B, Izetti P, Pereira ML, Bock H, Vargas FR, Moreira MÂ, Peixoto A, Teixeira MR, Ashton-Prolla P. Ewald IP, et al. Among authors: sandes ka. Genet Mol Biol. 2016 Apr-Jun;39(2):223-31. doi: 10.1590/1678-4685-GMB-2014-0350. Genet Mol Biol. 2016. PMID: 27303907 Free PMC article.