Additional file 5. Table S4. Missense variants in genes associated with iron metabolism pathway identified in patients with primary iron overload by NGWES.
1Total number of mutations: EGFR, n = 1627; TP53, n = 2387. 2The number of singlets, doublets and multiplets in EGFR is 1526, 98 and 5, respectively 3The number of singlets, doublets and multiplets in
Supporting data for the study reported in Calvarese et al. "Endomicroscopic AI-driven morphochemical imaging and fs-laser ablation for selective tumor identification and selective tissue removal", 202
Branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder characterized by branchial arch anomalies, hearing loss and kidney defects. Mutations in the human EYA1 gene have been reported asso
