Article

Challenges in Classification of <i>PKD1</i> Missense Variation in Autosomal Dominant Polycystic Kidney Disease

2026-08-02

Abstract excerpt

<h4>Purpose</h4> Autosomal Dominant Polycystic Kidney Disease is the most common monogenic kidney disease and largely due to variants in PKD1 . We aimed to assess pathogenicity evidence for PKD1 missense variants in disease databases and evaluate in silico pathogenicity prediction tool performance. <h4>Methods</h4> PKD1 missense variants reported as pathogenic, likely pathogenic or likely benign were extract...

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Literature Corpus work: c6c97677-516b-5a88-b096-c0328c074755
DOI: 10.64898/2026.07.30.26359376

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