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Results of genetic analyses of rs755160624 (NM_015090.3 c.2491C>T, (p.Arg831Ter) in the NFASC gene. (A) WES in proband (IGV view), (B–D) results of Sanger sequencing and ADS confirming the homozygosity of proband (B total count 11436, C-143 (1%), T-11207 (98%)), and demonstrating heterozygosity of her mother (C total count 9774, C-4823 (49%), T-4902 (50%)) and father (D total count 12620, C-6317 (50), T-6245 (49%)).
