Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
Reference
Sergouniotis, PI, et al. “Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy”. Am J Hum Genet, vol. 94, no. 5, Apr. 2014, pp. 760-9.
