Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
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Basel-Vanagaite L, et al. Among authors: karp na.
Am J Hum Genet. 2012 Dec 7;91(6):998-1010. doi: 10.1016/j.ajhg.2012.10.011. Epub 2012 Nov 29.
Am J Hum Genet. 2012.
PMID: 23200864
Free PMC article.