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Estimating the penetrance of pathogenic gene variants in families with missing pedigree information
Accurate assessment of the age-dependent disease risk conferred by germline variants in disease susceptibility genes is often hampered by the way the data are collected. Cohort-based data sets frequently contain an overrepresentation of patients (i.e. carriers of the gene variant of interest affecte...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SAGE Publications
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745609/ https://www.ncbi.nlm.nih.gov/pubmed/30073909 http://dx.doi.org/10.1177/0962280218791338 |