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PubMed for id: 462247

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Intermediate Charcot-Marie-Tooth disease.
Liu L, Zhang R. Liu L, et al. Neurosci Bull. 2014 Dec;30(6):999-1009. doi: 10.1007/s12264-014-1475-7. Epub 2014 Oct 17. Neurosci Bull. 2014. PMID: 25326399 Free PMC article. Review.
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC; NISC Comparative Sequencing Program; Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Züchner S, Szigeti K, Lupski JR, Hou YM, Green ED, Antonellis A. McLaughlin HM, et al. Am J Hum Genet. 2010 Oct 8;87(4):560-6. doi: 10.1016/j.ajhg.2010.09.008. Am J Hum Genet. 2010. PMID: 20920668 Free PMC article.