Fig. 5From: Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variationsRare variants identified via WES. a A homozygous variant was identified in the SLC25A31 gene (c.251G > A, p.R84H) via the NGS method. b Sanger sequencing reference of SLC25A31. c The c.251G > A mutation (red arrow) was validated by Sanger sequencingBack to article page