FIGURE

Fig. 2

ID

ZDB-FIG-240308-5

Publication

Koparir et al., 2024 - Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

Other Figures

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Fig. 2

Genetic results of the family. A Homozygous intervals in the patient’s genome, as determined by HomozygosityMapper. MSGN1 resides in a ~ 13.2 Mb homozygous interval on chromosome 2 (black arrow). B Sanger sequencing electropherogram of the patient’s variant in MSGN1. The mutated base is indicated by a black arrow. C Segregation of the MSGN1 variant within the family

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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