NHS
NM_001291867.2:p.E240Splc
Ling C et al.
Bmc Medical Genetics, 2019
Ding X et al.
Ophthalmic Genetics, 2009
Florijn RJ et al.
European Journal of Human Genetics : Ejhg, 2006
Burdon KP et al.
American Journal of Human Genetics, 2003