Type | Transmission | Publication . Mgi Jnum | J:298296 |
Publication . Citation | Zha C, et al. (2020) Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. Hum Mol Genet 29(18):3054-3063 |