FIGURE

Fig. 2

ID

ZDB-FIG-191230-654

Publication

Wu et al., 2019 - EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Other Figures

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All Figure Page

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Fig. 2

Pedigrees and EFTUD2 variant identified by family trio whole-exome sequencing. a Pedigree and genotype. b De novo heterozygous mutation c.1030_1031delTG (p.Trp344fs*2) in EFTUD2 (NM_001258353.1) in the proband. c Difference in protein structures between normal EFTUD2 and the variant

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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