FIGURE

Figure 5

ID

ZDB-FIG-210813-9

Publication

Park et al., 2021 - Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly

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Figure 5

Electropherograms of EP300 and PLAU obtained using Sanger sequencing. Two heterozygous missense variants in EP300 (A) and PLAU (B) were identified as de novo.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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