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Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes- ENG and ACVRL1

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Date: October 10, 2024
Authors:
Anna Sbalchiero, Arupa Ganguly, Bryony A. Thompson, Carla Olivieri, Carmelo Bernabeu, Claire L. Shovlin, Claudia Cantarini, Desiree DeMille, Gaetan Lesca, Hilary Racher, Jaime Jessen, Jamie McDonald, Luca Jovine, Maarten P. G. Massink, Maud Tusseau, Pinar Bayrak-Toydemir, Raj S. Kasthuri, Shoji Ichikawa, Sophie Dupuis-Girod
Journal: Human Mutation
Journal Volume: 2024
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