A study reveals a high frequency of the PPOX p.Arg168His pathogenic variant in Brazilian patients with variegate porphyria. This finding enhances understanding of genetic factors contributing to the disease.
high frequency of the ppox p arg168his pathogenic variant among brazilian patients with variegate porphyria
Original title: “High frequency of the PPOX p.Arg168His pathogenic variant among Brazilian patients with variegate porphyria.”