Case Report
Copyright ©The Author(s) 2022.
World J Clin Cases. Mar 6, 2022; 10(7): 2341-2350
Published online Mar 6, 2022. doi: 10.12998/wjcc.v10.i7.2341
Figure 5
Figure 5 A novel heterozygous missense variant in the ETHE1 gene was found. A: Sanger sequencing confirmed that the patient was heterozygous for the variant ETHE1 c.613G>A (p.Val205Met), the arrow indicated the position of the variant; B: Sanger sequencing confirmed that no ETHE1 variant was found in her parents or her younger sister. C: Structural models of wild-type and mutant ETHE1 were built using SWISSMODEL. The position of the variant was indicated by arrows.