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