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bibliographicCitation Lee S, Nam T, Li W, Kim JH, Yoon W, Choi Y, Kim K, Cai H, Kim MJ, Kim C, Choy HE, Kim N, Chay KO, Kim M, Choi S. Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. Scientific Reports. 2017 Aug 31;7(1):10222. doi: 10.1038/s41598-017-10652-z.
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title Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome
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