Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome
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Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome
Lee S-H, Nam T-S, Li W, Kim JH, Yoon W, Choi Y-D, Kim K-H, Cai H, Kim MJ, Kim C, Choy HE, Kim N, Chay KO, Kim M-K, Choi S-Y. Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. Sci Rep. 2017;7:10222. doi:10.1038/s41598-017-10652-z
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