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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...
Autores principales: | Reis, Linda M., Chassaing, Nicolas, Bardakjian, Tanya, Thompson, Samuel, Schneider, Adele, Semina, Elena V. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2022
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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 |
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