GeneticsJournal of the American Society of NephrologyPeer-reviewed
Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression
Alena Vrbacká, Anna Přistoupilová, Kendrah O. Kidd…·Stanislav Kmoch
This study uses long-read sequencing to characterize MUC1 VNTR variation in ADTKD-MUC1, identifying frameshift mutations and their association with disease progression.
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