Cargando…
What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?
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 recently...
| Autor principal: | |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818908/ https://www.ncbi.nlm.nih.gov/pubmed/33478553 http://dx.doi.org/10.1186/s13023-021-01684-w |