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Epi4K: gene discovery in 4,000 genomes.
Epi4K Consortium. Epi4K Consortium. Epilepsia. 2012 Aug;53(8):1457-67. doi: 10.1111/j.1528-1167.2012.03511.x. Epub 2012 May 29. Epilepsia. 2012. PMID: 22642626 Free PMC article.
A nonsense mutation in IKBKB causes combined immunodeficiency.
Mousallem T, Yang J, Urban TJ, Wang H, Adeli M, Parrott RE, Roberts JL, Goldstein DB, Buckley RH, Zhong XP. Mousallem T, et al. Blood. 2014 Sep 25;124(13):2046-50. doi: 10.1182/blood-2014-04-571265. Epub 2014 Aug 18. Blood. 2014. PMID: 25139357 Free PMC article.