Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts

The same genetic variant found in different individuals can cause a range of diverse phenotypes, from no discernible clinical phenotype to severe disease, even among related individuals. Such variants can be said to display incomplete penetrance, a binary phenomenon where the genotype either causes...

Descripción completa

Detalles Bibliográficos
Autores principales: Kingdom, Rebecca, Wright, Caroline F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9380816/
https://www.ncbi.nlm.nih.gov/pubmed/35983412
http://dx.doi.org/10.3389/fgene.2022.920390

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9380816/
https://www.ncbi.nlm.nih.gov/pubmed/35983412
http://dx.doi.org/10.3389/fgene.2022.920390

Ejemplares similares