Reference
Kohl, Susanne, et al. “A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia”. The American Journal of Human Genetics, vol. 91, no. 3, Aug. 2012, pp. 527–532, https://doi.org/10.1016/j.ajhg.2012.07.006.
PubMed Reference Number (PMID)
22901948