Specifications of the ACMG/AMP Variant CurationGuidelines for Hereditary Hemorrhagic TelangiectasiaGenes—ENG and ACVRL1
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
Collaborators: arup laboratories; Consejo Superior de Investigaciones Científicas; Femme Mère Enfants Hospital; Impact Genetics/Dynacare; Imperial College London; Karolinska University Hospital; Royal Melbourne Hospital; University Medical Center Utrecht; University of North Carolina at Chapel Hill; University of Pavia; University of Pennsylvania; University of Toronto; University of Utah