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.
4 Genes / Markers
Marker Type Symbol Name
Gene raraa retinoic acid receptor, alpha a
Gene rarab retinoic acid receptor, alpha b
Gene rarga retinoic acid receptor gamma a
Gene rargb retinoic acid receptor, gamma b