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Multi-Tool Computational Analysis of Mutational Tolerance at Critical Human BEST1 Bestrophin-1 Residues..."

2026-04-14

Abstract excerpt

<title>Abstract</title> <p> Abstract <bold>Background:</bold> Bestrophinopathies, including Best Vitelliform Macular Dystrophy (BVMD), are caused by mutations in the <italic>BEST1</italic> gene. Despite its clinical importance, the mutational tolerance of many critical residues remain poorly understood, particularly in South Asian populations where clinical data is often underrepresented. <bold>Methods:</bo...

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Literature Corpus work: 90f69a11-4a63-5a97-acb0-5824b2d9c942
DOI: 10.21203/rs.3.rs-9389974/v1

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