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Medrxiv : the Preprint Server for Health Sciences|December 16, 2024
Consultation informs strategies to improve functional evidence use in variant classificationRehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
American Journal of Human Genetics|June 6, 2025
Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientistsSophie Allen, Alice Garrett, Charlie F Rowlands, et al.
Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Küry-Isidor SyndromePankhuri Gupta, Elsa V Balton, Mavika Tejura, et al.
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