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CalPen (Calculator of Penetrance), a web-based tool to estimate penetrance in complex genetic disorders
Mutations conferring susceptibility to complex disorders also occur in healthy individuals but at significantly lower frequencies than in patients, indicating that these mutations are not completely penetrant. Therefore, it is important to estimate the penetrance or the likelihood of developing a di...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6988981/ https://www.ncbi.nlm.nih.gov/pubmed/31995602 http://dx.doi.org/10.1371/journal.pone.0228156 |