Research Paper Volume 14, Issue 13 pp 5299—5310

Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants

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Figure 2. Pedigree analysis of the family in the study: (A) the pedigree showing the inheritance of the ERCC8 variants, (B) chromatograms for the variants verified by Sanger sequencing, (C) evolutionary conservation of ERCC8 p.G162, and (D) prediction of the effect of the missense variant.