학술논문
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
Document Type
Article
Author
Bauwens, M.; Naessens, S.; Van Cauwenbergh, C.; Rosseel, T.; De Leeneer, K.; De Jaegere, S.; Van Laethem, T.; Leroy, B.P.; De Baere, E.; Garanto, A.; Sangermano, R.; Khan, M.; Collin, R.W.J.; Cremers, F.P.M.; Weisschuh, N.; Sadler, F.; Kohl, S.; Wissinger, B.; De Zaeytijd, J.; Balikova, I.; Bauwens, J.; De Vries, M.; Carss, K.; Arno, G.; Fakin, A.; Webster, A.R.; de Ravel de l’Argentière, T.J.L.; Sznajer, Y.; Vuylsteke, M.; Cherry, T.
Source
In: Genetics in Medicine . (Genetics in Medicine, 1 August 2019, 21(8):1761-1771)
Subject
Language
English
ISSN
15300366
10983600
10983600