Diversity of ATM gene variants: a population-based genome data analysis for precision medicine
Abstract Background Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder that causes deficiency or dysfunction of the ataxia-telangiectasia mutated (ATM) protein. Not only AT patients, but also certain ATM heterozygous mutation carriers show a significantly reduced life expectancy due t...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2019-08-01
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| Series: | Human Genomics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s40246-019-0234-2 |