Compendium of clinical variant classification for 2,247 unique ABCA4 variants to improve genetic medicine access for Stargardt Disease
Stéphanie S. Cornelis, Miriam Bauwens, Lonneke Haer‐Wigman…·Frans P.M. Cremers
The paper classifies 2,247 ABCA4 variants using updated ACMG/AMP guidelines to improve genetic diagnosis and counseling for Stargardt Disease.