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Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling
Ataxia telangiectasia and Rad3-related (ATR) protein, a kinase that regulates a DNA damage–response pathway, is mutated in ATR-Seckel syndrome (ATR-SS), a disorder characterized by severe microcephaly and growth delay. Impaired ATR signaling is also observed in cell lines from additional disorders c...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society of Human Genetics
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1950915/ https://ncbi.nlm.nih.gov/pubmed/17564965 |
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