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CTSK variants detected by massively parallel sequencing and Sanger sequencing. Two heterozygous variants of CTSK were detected by next-generation sequencing of candidate genes and confirmed by Sanger sequencing. One was a frameshift variant in exon 5, c.426delT (p.Phe142Leufs∗19), and the other was a novel missense variant in exon 6, c.755G>A (p.Ser252Asn).
