Systematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease–MUC1 27dupC Pathogenic Variant through Exome Sequencing

Abstract excerpt

Key Points MUC1 is associated with autosomal dominant tubulointerstitial kidney disease, a genetic disorder progressing to kidney failure. Variations in this gene are not easily diagnosed by conventional methods due to the MUC1 architecture, which contains a variable number of tandem repeats. Using dedicated bioinformatics tools, we systematically detected the presence of 27dupC most common MUC1 pathogenic...

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