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Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis
Clinical heterogeneity is common in Mendelian disease, but small sample sizes make it difficult to identify specific contributing factors. However, if a disease represents the severely affected extreme of a spectrum of phenotypic variation, then modifier effects may be apparent within a larger subse...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9237040/ https://www.ncbi.nlm.nih.gov/pubmed/35760791 http://dx.doi.org/10.1038/s41467-022-31030-y |