Cargando…
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...
Autores principales: | Kingdom, Rebecca, Wright, Caroline F. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
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 |
Ejemplares similares
-
Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record
por: Elhanan, Gai, et al.
Publicado: (2022) -
Variability in gene expression underlies incomplete penetrance
por: Raj, Arjun, et al.
Publicado: (2010) -
Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance
por: Liu, Xiao-Rong, et al.
Publicado: (2020) -
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism
por: Mkaouar, Rahma, et al.
Publicado: (2021) -
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders
por: Green, David J., et al.
Publicado: (2020)