Kalaskar et al., 2019
- High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.
Human Mutation
41(3):678-695
Full text @ Hum. Mutat.
Human Disease | Fish | Environment | Evidence Code |
---|---|---|---|
coloboma |