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6), with c.1878+1G A and c.895C T (p.Arg299Ter) in family 1 and c.1878+1G A and c.1027C T (p.Arg343Cys) in family 2. These variants were inherited from their unaffected parents by Sanger sequencing, respectively, and ARMC9 c.895C T (p.Arg299Ter) and c.1878+1G A were novel variants. In silico analysis indicated the c.1027C T (p.Arg343Cys) would likely affect the secondary structure of the ARMC9 protein. The minigene study demonstrated that the splice site variant c.1878+1G A abolished the canonica

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