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Functional and Computational Assessment of Missense Variants in the Ataxia-Telangiectasia Mutated (ATM) Gene: Mutations with Increased Cancer Risk
The functional consequences of missense variants are often difficult to predict. This becomes especially relevant when DNA sequence changes are used to determine a diagnosis or prognosis. To analyze the consequences of twelve missense variants in patients with mild forms of ataxia-telangiectasia (A-...
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| Hauptverfasser: | , , , , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2009
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2776735/ https://ncbi.nlm.nih.gov/pubmed/18634022 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20805 |
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