Genetic & Genomic MedicinemedRxivPreprint
Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Kury-Isidor Syndrome
Pankhuri Gupta, Elsa V. Balton, Malvika Tejura…·Andrew B. Stergachis
The paper recalibrates BAP1 MAVE data for different disease phenotypes to enable accurate variant classification across related disorders.
DOI 10.64898/2026.05.15.26352805