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- j.ajhg.2012.05.023 date "Jul 2012".
- j.ajhg.2012.05.023 doi "10.1016/j.ajhg.2012.05.023".
- j.ajhg.2012.05.023 isCitedBy KCTD7.
- j.ajhg.2012.05.023 issue "1".
- j.ajhg.2012.05.023 journal "American Journal of Human Genetics".
- j.ajhg.2012.05.023 pages "202–8".
- j.ajhg.2012.05.023 pmc "3397260".
- j.ajhg.2012.05.023 pmid "22748208".
- j.ajhg.2012.05.023 title "A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system".
- j.ajhg.2012.05.023 vauthors "Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL".
- j.ajhg.2012.05.023 volume "91".