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Figure 6

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Publication: Tevar et al., 2024 - The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease
All Figures: Figures for Tevar et al., 2024

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Figure 6

Evaluation of the functional effect of four rare ADAMTSL4 variants identified in childhood glaucoma patients, by heterologous expression in zebrafish. One-cell zebrafish embryos were microinjected with pcDNA3.1-hADAMTSL4-GFP cDNA constructs encoding the four variants (R98W, n = 374; S719L, n = 381; R774W, n = 477; and R1083H, n = 485) and the wild type protein (n = 1013). (A) Embryo lethality was quantified at 24 h after microinjection and (B–S) the phenotypes and recombinant protein expression were evaluated in larvae by bright field and fluorescence microscopy (3 dpf), respectively. The images are representative of the larvae expressing the recombinant proteins. Additional representative larvae are shown in Figure S4. (T–V) pcDNA3.1-GFP was microinjected as a control (n = 784). *: p < 0.05; ***: p < 0.001. R98W: p.Arg98Trp. S719L: p.Ser719Leu. R774W: p.Arg774Trp. R1083H: p.Arg1083His.

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