FIGURE

Fig. 3

ID

ZDB-FIG-220706-99

Publication

Yang et al., 2022 - A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly

Other Figures

Fig. 2
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Fig. 3

Protein domains and location of mutation in EFTUD2. The missense mutation (c.671G>T) in EFTUD2 was located within the transcription factor GTP?binding domain, and prior to translation elongation factor EFTu?like, domain 2. Black arrows indicate the point mutation (G>T)

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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