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Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression

2025-09-15

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<h4>Background</h4> ADTKD- MUC1 is caused by frameshift mutations in MUC1 gene that produce a frameshifted protein (MUC1fs) toxic to kidney cells. The gene’s variable number of tandem repeats (VNTR), with high GC content, makes it largely inaccessible to standard sequencing. As a result, both the reference sequence and natural variation in this region remain poorly defined, complicating mutation detection and d...

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Literature Corpus work: 726ac32d-4abb-5fc6-a273-1829556c46b6
DOI: 10.1101/2025.09.06.673538

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Long-Read Sequencing of the <i>MUC1</i> VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression

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