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ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes

ARHGAP35 has known roles in cell migration, invasion and division, neuronal morphogenesis, and gene/mRNA regulation; prior studies indicate a role in cancer in humans and in the developing eyes, neural tissue, and renal structures in mice. We identified damaging variants in ARHGAP35 in five individu...

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Detalles Bibliográficos
Autores principales: Reis, Linda M., Chassaing, Nicolas, Bardakjian, Tanya, Thompson, Samuel, Schneider, Adele, Semina, Elena V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9995503/
https://www.ncbi.nlm.nih.gov/pubmed/36450800
http://dx.doi.org/10.1038/s41431-022-01246-z