RCPS_EIF4A3
- Gene
- EIF4A3
- Disease
- RCPS
- Inheritance
- AR
- Classification
- Definitive
- Total Score
- 15
- Publications Reviewed
- 3
- Publication Span
- 4.24 years
- Last Updated
- 06/02/2025
- Curator(s)
- Laurel Hiatt
Genetic evidence
Total: 9
| Singular Evidence | Probands | PMID:29112243 | 6 | 6 families with clinical characterization, sequencing etc. | ||
| Collective Evidence | Segregation | PMID:24360810 | 3 | LoD score 9.533, WES |
2 rows
Experimental evidence
Total: 6
| Functional Alteration | Patient cells | PMID:28334780 | 2 | |||
| Models | Non-human model organism | PMID:28334780 | 3 | Conditional mouse model | ||
| Models | Non-human model organism | PMID:24360810 | 2 | Zebrafish |
3 rows
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.