Linder et al., 2014 - Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa. PLoS One   9:e111754 Full text @ PLoS One
Human Disease / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
retinitis pigmentosa