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Computational Exploration of Protein Structure Dynamics and RNA structural Consequences of <i>PKD1</i> Missense Variants: Implications in ADPKD Pathogenesis

2024-03-26

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder characterized by the formation of fluid-filled cysts within the kidneys, leading to progressive renal dysfunction, is primarily caused by mutations in PKD1 , a gene encoding for the protein polycystin-1 (PC1). Understanding the structural consequences of PKD1 variants is crucial for elucidating disease mechanisms and developing targeted the...

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Literature Corpus work
0c3de3f5-9c10-53c6-96fe-3a837d20a914
DOI
10.1101/2024.03.21.586139
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Computational Exploration of Protein Structure Dynamics and RNA structural Consequences of <i>PKD1</i> Missense Variants: Implications in ADPKD PathogenesisDOI 10.1101/2024.03.21.586139
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