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Rare variants at 16p11.2 are associated with common variable immunodeficiency.
Maggadottir SM, Li J, Glessner JT, Li YR, Wei Z, Chang X, Mentch FD, Thomas KA, Kim CE, Zhao Y, Hou C, Wang F, Jørgensen SF, Perez EE, Sullivan KE, Orange JS, Karlsen TH, Chapel H, Cunningham-Rundles C, Hakonarson H. Maggadottir SM, et al. Among authors: zhao y. J Allergy Clin Immunol. 2015 Jun;135(6):1569-77. doi: 10.1016/j.jaci.2014.12.1939. Epub 2015 Feb 10. J Allergy Clin Immunol. 2015. PMID: 25678086 Free PMC article.
Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.
Chang X, Zhao Y, Hou C, Glessner J, McDaniel L, Diamond MA, Thomas K, Li J, Wei Z, Liu Y, Guo Y, Mentch FD, Qiu H, Kim C, Evans P, Vaksman Z, Diskin SJ, Attiyeh EF, Sleiman P, Maris JM, Hakonarson H. Chang X, et al. Among authors: zhao y. Nat Commun. 2017 Sep 18;8(1):569. doi: 10.1038/s41467-017-00408-8. Nat Commun. 2017. PMID: 28924153 Free PMC article.
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