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An allelic-series rare-variant association test for candidate-gene discovery
Allelic series are of candidate therapeutic interest because of the existence of a dose-response relationship between the functionality of a gene and the degree or severity of a phenotype. We define an allelic series as a collection of variants in which increasingly deleterious mutations lead to inc...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10432147/ https://www.ncbi.nlm.nih.gov/pubmed/37494930 http://dx.doi.org/10.1016/j.ajhg.2023.07.001 |