Fig. 2

Whole-exome sequencing (WES) and Sanger sequencing revealed missense variant of c.524G > T (p.C175F) in FOLR1 gene. a Homozygous variant in proband and heterozygous variant in his parents were identified. b Evolutionary conservation of cysteine residue at position 175 (red box) in the FOLR1 gene among species. wt, wildtype