Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
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Cottenie E, et al. Among authors: moroni i.
Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30.
Am J Hum Genet. 2014.
PMID: 25439726
Free PMC article.