Article
ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities.
PLoS genetics - 1 Sept 2020
Deshpande Ojas, Lara Raquel Z, Zhang Oliver R, Concepcion Dorothy, Hamilton Bruce A
Abstract excerpt
Interpreting rare variants remains a challenge in personal genomics, especially for disorders with several causal genes and for genes that cause multiple disorders. ZNF423 encodes a transcriptional regulatory protein that intersects several developmental pathways. ZNF423 has been implicated in rare neurodevelopmental disorders, consistent with midline brain defects in Zfp423-mutant mice, but pathogenic potential...
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