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Page 1
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. Groman JD, et al. Am J Hum Genet. 2004 Jan;74(1):176-9. doi: 10.1086/381001. Epub 2003 Dec 18. Am J Hum Genet. 2004. PMID: 14685937 Free PMC article.
Evaluation of the disease liability of CFTR variants.
Sosnay PR, Castellani C, Corey M, Dorfman R, Zielenski J, Karchin R, Penland CM, Cutting GR. Sosnay PR, et al. Methods Mol Biol. 2011;742:355-72. doi: 10.1007/978-1-61779-120-8_21. Methods Mol Biol. 2011. PMID: 21547743
Assessing the Disease-Liability of Mutations in CFTR.
Ferec C, Cutting GR. Ferec C, et al. Cold Spring Harb Perspect Med. 2012 Dec 1;2(12):a009480. doi: 10.1101/cshperspect.a009480. Cold Spring Harb Perspect Med. 2012. PMID: 23209179 Free PMC article.
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