Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
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Bem D, et al. Among authors: yoshimura s.
Am J Hum Genet. 2011 Apr 8;88(4):499-507. doi: 10.1016/j.ajhg.2011.03.012.
Am J Hum Genet. 2011.
PMID: 21473985
Free PMC article.