Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant

Nathalie M Bax, Riccardo Sangermano, Susanne Roosing, Alberta A H J Thiadens, Lies H Hoefsloot, L Ingeborgh van den Born, Milan Phan, B Jeroen Klevering, Carla Westeneng-van Haaften, Terry A Braun, Marijke N Zonneveld-Vrieling, Ilse de Wijs, Merve Mutlu, Edwin M Stone, Anneke I den Hollander, Caroline C W Klaver, Carel B Hoyng, Frans P M Cremers

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Medicine & Life Sciences