What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?
Abstract The purpose of this article is to stimulate discussion about whether a phenome-wide association study is a suitable tool for uncovering late-onset risks in patients with monogenic disorders that are not yet fully recognized because the life expectancy of people with such conditions has only...
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| Format: | Article |
| Language: | English |
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BMC
2021-01-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-021-01684-w |