FIGURE
Fig. 2
- ID
- ZDB-FIG-210324-44
- Publication
- Costantini et al., 2020 - Novel RPL13 variants and variable clinical expressivity in a human ribosomopathy with spondyloepimetaphyseal dysplasia
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Fig. 2
Genetic findings in the RPL13 gene. Genetic variants and pedigrees of the four families. RPL13 mutations were identified by WGS in family 1 (A), by Sanger sequencing in families 2 and 3 (B, C), and by WES followed by Sanger sequencing in family 4 (D). Schematic illustration of the RPL13 gene showing all the variants identified in this report (marked above the gene) and previously reported (below the gene) (E). |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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Full text @ J. Bone Miner. Res.