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Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of <i>BAP1</i> Functional Assays for Küry-Isidor Syndrome

2026-05-21

Abstract excerpt

<h4>Purpose</h4> Multiplexed assays of variant effect (MAVEs) are transforming clinical variant interpretation. However, many genes are associated with more than one disease, making it unclear whether functional data generated in one disease context may be directly applicable to another. For example, germline BAP1 missense variants are associated with both BAP1 tumor predisposition syndrome ( BAP1 -TPDS) and K...

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Literature Corpus work: f020ef11-d80a-501d-94dc-df81412ed0a4
DOI: 10.64898/2026.05.15.26352805

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