Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.
Maryam HosseinpourFariba ArdalaniMarzieh MohseniMaryam BeheshtianSanaz ArzhangiShahrzad OssarehHossein NajmabadiAli NobakhtKimia KahriziBehrooz BroumandPublished in: Archives of Iranian medicine (2022)
Our findings suggest that targeted gene panel sequencing is expected to be the method of choice to improve diagnostic and prognostic accuracy in PKD patients with heterogeneity in genetic background.