Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy.
Tugche S ChenNarin SheriDavid S EhmannMatthew D BensonPublished in: Ophthalmic genetics (2024)
-related disorders. The identified missense variant is predicted to be damaging by most in silico models, and the residue is highly conserved, adding support to a dual genetic diagnosis in this case.