Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework

Cornelis, S. S., Bauwens, M., Haer-Wigman, L., De Bruyne, M., Pantrangi, M., De Baere, E., Hufnagel, R. B., Dhaenens, C.-M., & Cremers, F. P. M. (2023). Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework. Human Mutation, 2023, 1–12. https://doi.org/10.1155/2023/6815504

Authors:

Stéphanie S. Cornelis

Miriam Bauwens

Lonneke Haer‐Wigman

Marieke De Bruyne

Madhulatha Pantrangi

Elfride De Baere

Robert B. Hufnagel

Claire‐Marie Dhaenens

Frans P.M. Cremers

Affiliated Authors:

Madhulatha Pantrangi