Confirmation of association of TGFBI p.Ser591Phe mutation with variant lattice corneal dystrophy.
Charlene H ChooDoug D ChungKaitlyn V LedwitchAlexa KasselsJens MeilerAnthony J AldavePublished in: Ophthalmic genetics (2022)
is associated with an unilateral variant of LCD. Rosetta-predicted stability changes indicate that the p.Ser591Phe variant is destabilizing, which is consistent with other observations for LCD-causing mutations.
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