The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).
Chi H, Gan C, Jiang Y, Chen D, Qiu J, Yang Q, Chen Y, Wang M, Yang H, Jiang W, et al. Mol Genet Genomic Med. 2023 Jan; 11(1):e2090. Epub 2022 Nov 12.