https://www.selleckchem.com/pr....oducts/Rapamycin.htm
New mutations were identified in KRT9 and AAGAB. No pathogenic mutations were detected in focal PPK. Variants of uncertain significance (VUS) in PPK-associated and other genes were observed in 21 patients that might explain their PPK. No suggestive pathogenic variants were found for 12 patients. Diffuse PPK was the most common (50%) and striate PPK was not observed. We identified pathogenic mutations in 48% of our PPK patients, mainly in five genes AQP5, AAGAB, KRT9, SERPINB7 and SLURP1. Diffuse PPK was the most common (50%) and stria
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