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Article

The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.

Ophthalmic research - 1 Jan 2024

Han Ji Hoon, Cancellieri Francesca, Perea-Romero Irene, Ayuso Carmen, Quinodoz Mathieu, Rivolta Carlo

Abstract excerpt

BACKGROUND: Although the p.C759F (c.2276G>T, p.Cys759Phe) variant in the USH2A gene has been identified in association with retinal degeneration by several authors, its pathogenicity has been questioned once by the publication of two unaffected homozygotes from a single family. OBJECTIVES: The objective of the study was to ascertain the role of p.C759F in hereditary retinal disease. METHODS: We examined 87...

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PMID: 38016437
DOI: 10.1159/000535545

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