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- j.ajhg.2012.11.017 date "Jan 2013".
- j.ajhg.2012.11.017 doi "10.1016/j.ajhg.2012.11.017".
- j.ajhg.2012.11.017 isCitedBy Hydroxyacyl-Coenzyme_A_dehydrogenase.
- j.ajhg.2012.11.017 issue "1".
- j.ajhg.2012.11.017 journal "American Journal of Human Genetics".
- j.ajhg.2012.11.017 pages "131–6".
- j.ajhg.2012.11.017 pmid "23273570".
- j.ajhg.2012.11.017 title "Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation".
- j.ajhg.2012.11.017 vauthors "Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S".
- j.ajhg.2012.11.017 volume "92".