Reduced penetrance in human inherited disease
For many inherited diseases, the same mutation is not always expressed in all persons who carry it, moreover, when the mutation is expressed, it is not always expressed in the same way. These findings are the basis for the concepts of penetrance and expressivity. Understanding the factors that contr...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2014-04-01
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| Series: | Egyptian Journal of Medical Human Genetics |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1110863014000184 |