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Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.
Crooks DR, Cawthon GM, Fitzsimmons CM, Perez M, Ricketts CJ, Vocke CD, Yang Y, Middelton L, Nielsen D, Schmidt LS, Tandon M, Merino MJ, Ball MW, Meier JL, Batista PJ, Linehan WM. Crooks DR, et al. Among authors: yang y. Hum Mol Genet. 2023 Nov 3;32(22):3135-3145. doi: 10.1093/hmg/ddad131. Hum Mol Genet. 2023. PMID: 37561409
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