ENIGMA Effort to Standardize the Classification of Variants Disrupting Splicing of In-Frame Exons Using BRCA1 Exon 18 As an Example
Joanna Domenech-Vivo,Helene Tubeuf,Romy L. S. Mesman,Aurelie Drouet, Melanie Girardi,Maria Concepcion Alonso-Cerezo,Diana Baralle,Nadia Boutry-Kryza,Dave Bunyan,Helen J. Byers,Kathleen Claes,D. Gareth Evans,Miguel de la Hoya,Sophie Krieger,Conxi Lazaro,Melanie Leone,Eva Machackova,Mireia Menendez,Alejandro Moles-Fernandez,Gemma Montalban,Elke van Veen,Judith Balmana,Amanda B. Spurdle,Orland Diez,Maaike Vreeswijk,Alexandra Martins,Sara Gutierrez-Enriquez EUROPEAN JOURNAL OF HUMAN GENETICS（2023）
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