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Enhancing Variant Curation Guidelines to Optimize Clinical Genetic Testing for ABCA4 Retinopathies Utilizing the ClinGen Framework

Kristy Lee,Amber Waddell, C. Blair Compton,Stephanie S. Cornelis,Amy Dameron,Marieke De Bruyne,Miriam Bauwens,Mathieu Quinodoz,Eva Lenassi,Robyn Jamieson, Claire-Marie Dhaenhens,Andrea L. Vincent, Abby T. Fahim,Frans Cremers,Elfride De Baere,Robert Hufnagel

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE（2024）

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