FIGURE
Fig. 1
- ID
- ZDB-FIG-251117-11
- Publication
- Erkut et al., 2025 - A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B
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Fig. 1
Schematic of EIF3A and EIF3B domains, highlighting the proteasome component domain in EIF3A, and the RNA recognition motif in EIF3B Variants identified in the human cohort are shown in orange. The EIF3B full-gene deletion, hg38 (chr7:2314321–2554246)x1 also encompasses exon 1 of SNX8, CHST12, GRIFIN, LFNG, and several exons in the 3ʹ end of BRAT1. |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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Full text @ Am. J. Hum. Genet.