FIGURE
Fig. 7
- ID
- ZDB-FIG-240709-17
- Publication
- Ghaffar et al., 2024 - Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
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Fig. 7
NAV3 variants cause a spectrum of Neurodevelopmental disorders (NDD) in humans. Bar diagram of NAV3 gene and protein structure showing mutations identified in this study at the top and mutations reported previously for Autism Spectrum Disorder (ASD) with other cooccurring NDDs at the bottom. Overall, among the 30 known variants, 10 are located in the MTBD domain, making it a suspectable hotspot region. |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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