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...

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Detalles Bibliográficos
Autores principales: McCaw, Zachary R., O’Dushlaine, Colm, Somineni, Hari, Bereket, Michael, Klein, Christoph, Karaletsos, Theofanis, Casale, Francesco Paolo, Koller, Daphne, Soare, Thomas W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
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

Internet

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

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