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Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv

In genetic diseases with variable age of onset, an accurate estimation of the survival function for the mutation carriers and also modifying factors effects estimations are important for the management of asymptomatic gene carriers across life. Among the modifying factors, the gender of the parent t...

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Detalles Bibliográficos
Autores principales: Alarcon, Flora, Planté-Bordeneuve, Violaine, Nuel, Grégory
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10414668/
https://www.ncbi.nlm.nih.gov/pubmed/37561731
http://dx.doi.org/10.1371/journal.pone.0288958