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Artificial intelligence–assisted phenotype discovery of fragile X syndrome in a population-based sample
PURPOSE: Fragile X syndrome (FXS), the most prevalent inherited cause of intellectual disability, remains underdiagnosed in the general population. Clinical studies have shown that individuals with FXS have a complex health profile leading to unique clinical needs. However, the full impact of this X...
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| Publicat a: | Genet Med |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group US
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8257481/ https://ncbi.nlm.nih.gov/pubmed/33772223 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-021-01144-7 |
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