FIGURE

Figure 3

ID

ZDB-FIG-190723-1339

Publication

Leung et al., 2018 - Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

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Figure 3

Transient expression of RNA transcripts in zebrafish embryos. The injection dosage of each RNA transcript was optimised for comparison (RAF1: 50 pg/embryo; RIT1: 400 pg/embryo; A2ML1: 200 pg/embryo). A morphometric analysis was performed to compare the effect of the VUSs compared to the wild-type transcript at three dpf. Statistical significance was derived using a two-sided Fisher’s exact test to compare mutants with the corresponding WT. **p < 0.01; ***p < 0.001; ns: not significant. NIC: No injection control; (a) Proportion of zebrafish embryos with normal or diseased phenotypes. (b) Representative zebrafish embryos with a normal phenotype (c) craniofacial dysmorphism (d) gross malformations and (e) cardiac oedema.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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