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Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR?
Paixão D, Lima THA, de Souza RRF, Carnavalli JEP, Picanço-Albuquerque CG, Silva-Fernandes IJL, de Barros Silva PG, Mitne-Neto M, Moreira CM, Baratela WADR. Paixão D, et al. Among authors: de souza rrf. Front Oncol. 2024 Jun 18;14:1390221. doi: 10.3389/fonc.2024.1390221. eCollection 2024. Front Oncol. 2024. PMID: 38957325 Free PMC article.
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.
Quaio CRDC, Chung CH, Perazzio SF, Dutra AP, Moreira CM, Filho GMN, Sacramento-Bobotis PR, Penna MG, de Souza RRF, Cintra VP, Carnavalli JEP, da Silva RA, Paixão D, Baratela WADR, Olivati C, Spolador GM, Santos MNP, Pintao MC, Fornari ARDS, Burger M, Ramalho RF, Pereira OJE, E Ferreira EN, Mitne-Neto M, Kim CA. Quaio CRDC, et al. Among authors: de souza rrf. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):364-372. doi: 10.1002/ajmg.c.31932. Epub 2021 Jul 16. Am J Med Genet C Semin Med Genet. 2021. PMID: 34269512