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In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma.
Chami A, de Souza Zózimo TR, Alves TM, Matosinho CGR, Santos C, Simões MM, Cabral WLR, de Paula Ricardo BF, da Silva Filho AL, Carvalho MRS, da Conceição Braga L. Chami A, et al. Among authors: carvalho mrs. Fam Cancer. 2023 Oct;22(4):481-486. doi: 10.1007/s10689-023-00335-2. Epub 2023 Jun 15. Fam Cancer. 2023. PMID: 37316640
Are 22q11.2 distal deletions associated with math difficulties?
Carvalho MR, Vianna G, Oliveira Lde F, Costa AJ, Pinheiro-Chagas P, Sturzenecker R, Zen PR, Rosa RF, de Aguiar MJ, Haase VG. Carvalho MR, et al. Am J Med Genet A. 2014 Sep;164A(9):2256-62. doi: 10.1002/ajmg.a.36649. Epub 2014 Jul 2. Am J Med Genet A. 2014. PMID: 24989330
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