ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Bauwens, Miriam M; Garanto, Alejandro A; Sangermano, Riccardo R; Naessens, Sarah S; Weisschuh, Nicole N; De Zaeytijd, Julie J; Khan, Mubeen M; Sadler, Françoise F; Balikova, Irina I; Van Cauwenbergh, Caroline C; Rosseel, Toon T; Bauwens, Jim J; De Leeneer, Kim K; De Jaegere, Sarah S; Van Laethem, Thalia T; De Vries, Meindert M; Carss, Keren K; Arno, Gavin G; Fakin, Ana A; Webster, Andrew R AR; de Ravel de l'Argentière, Thomy J L TJL; Sznajer, Yves Y; Vuylsteke, Marnik M; Kohl, Susanne S; Wissinger, Bernd B; Cherry, Timothy T; Collin, Rob W J RWJ; Cremers, Frans P M FPM; Leroy, Bart P BP; De Baere, Elfride E
Publication Date: 2019-08
Variant appearance in text: STGD1: 2918+775_3328+640del