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 | |
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | ints1s4002b/+; ints1s4002a/+ | standard conditions |