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||Fish||Environment||Evidence Code|
|cataract||ints1s4002b/+ ; ints1s4002a/+||standard conditions||TAS|
|neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies||ints1s4002b/+ ; ints1s4002a/+||standard conditions||TAS|