Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies

Kheir, V; Cortes-Gonzalez, V; Zenteno, JC; Schorderet, DF

Schorderet, DF (reprint author), Inst Res Ophthalmol, Av Grand Champsec 64, CH-1950 Sion, Switzerland.

HUMAN MUTATION, 2019; 40 (6): 675

Abstract

Human transforming growth factor beta-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, w......

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