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  1. Oct 2026
    1. p.Arg107Ser

      17 patients with genetic variants in SDHB, VHL, EPAS1, or RET with pheochromocytoma were identified retroactively for this study. 5 pathogenic germline variants were confirmed in patients with clinical criteria of von Hippel Lindau syndrome. Next generation sequencing (NGS) re-confirmed these germline mutations. One of which was a p.R107S (c.319C>A) mutation in patient 3, a 26Y male with pheochromocytoma. No further manifestation details were provided, nor family information.