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FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.
Genet Med. 2011 Jan;13(1):39-45. doi: 10.1097/GIM.0b013e3181fa9fad.
Genet Med. 2011.
PMID: 21116185
Free article.
Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory.
Strom CM, Goos D, Crossley B, Zhang K, Buller-Burkle A, Jarvis M, Quan F, Peng M, Sun W.
Strom CM, et al.
Genet Med. 2012 Jan;14(1):95-100. doi: 10.1038/gim.0b013e3182329870. Epub 2011 Oct 7.
Genet Med. 2012.
PMID: 22237437
Free article.
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Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.
Hantash FM, Redman JB, Goos D, Kammesheidt A, McGinniss MJ, Sun W, Strom CM.
Hantash FM, et al.
J Mol Diagn. 2007 Sep;9(4):556-60. doi: 10.2353/jmoldx.2007.060141. Epub 2007 Aug 9.
J Mol Diagn. 2007.
PMID: 17690208
Free PMC article.
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