FIGURE
Fig. 1
- ID
- ZDB-FIG-241101-28
- Publication
- Shepherdson et al., 2024 - Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
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Fig. 1
Cohort variants and existing characterization of ZFX (A) Distribution of cohort variants throughout the ZFX coding sequence, with missense variants in red and truncating variants in blue (numbers indicate the corresponding probands). Evolutionary sequence conservation shown for ZFX across 19 vertebrate species.53 Missense tolerance ratios (MTRs) are calculated from gnomAD v2.0 exomes; dotted line indicates 50th percentile for MTR.54. (B) Evolutionary Action scores superimposed on a predicted ZFX structure, with residues colored proportional to evolutionary importance. |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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Full text @ Am. J. Hum. Genet.