ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
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F. Cremers | K. Carss | G. Arno | A. Webster | B. Wissinger | J. de Zaeytijd | C. van Cauwenbergh | T. Cherry | S. Kohl | A. Fakin | N. Weisschuh | B. Leroy | I. Balikova | R. Collin | M. Vuylsteke | K. De Leeneer | Y. Sznajer | R. Sangermano | Mubeen Khan | M. Bauwens | A. Garanto | Thalia Van Laethem | T. Rosseel | Sarah Naessens | S. De Jaegere | F. Sadler | E. de Baere | Meindert De Vries | Jim Bauwens | Thomy J. L. de Ravel de l’Argentière