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ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities

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...

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Detalles Bibliográficos
Autores principales: Deshpande, Ojas, Lara, Raquel Z., Zhang, Oliver R., Concepcion, Dorothy, Hamilton, Bruce A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7515201/
https://www.ncbi.nlm.nih.gov/pubmed/32925911
http://dx.doi.org/10.1371/journal.pgen.1009017