Krall et al., 2019 - Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. European journal of human genetics : EJHG   27(4):582-593 Full text @ Eur. J. Hum. Genet.
Human Disease / Model Data (2 Records)
Human Disease Fish Environment Evidence Code
cataract ints1s4002b/+; ints1s4002a/+ standard conditions
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies ints1s4002b/+; ints1s4002a/+ standard conditions