Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique

Jessica Kachmar,Hassan Saei,Vincent Morinière, Laurence Heidet,Bertrand Knebelmann, Olivier Gribouval, Manon Mautret-Godefroy,Stéphane Burtey, Vincent Vuiblet, Asma Alla, Axel Ibalanky, Olivier Moranne,Mathilde Nizon, Benjamin Savenkoff,Patrick Nitschké,Corinne Antignac, Guillaume Dorval

American Journal of Kidney Diseases（2025）

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Key words

Autosomal dominant tubulointerstitial kidney disease,ADTKD,MUC1 gene,Genetics,Hereditary kidney disease,Genetic testing,Chronic kidney disease

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