Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders

Inherited eye disorders (IED) are a heterogeneous group of Mendelian conditions that are associated with visual impairment. Although these disorders often exhibit incomplete penetrance and variable expressivity, the scale and mechanisms of these phenomena remain largely unknown. Here, we utilize pub...

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Detalles Bibliográficos
Autores principales: Green, David J., Sallah, Shalaw R., Ellingford, Jamie M., Lovell, Simon C., Sergouniotis, Panagiotis I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7074066/
https://www.ncbi.nlm.nih.gov/pubmed/32050448
http://dx.doi.org/10.3390/genes11020179

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7074066/
https://www.ncbi.nlm.nih.gov/pubmed/32050448
http://dx.doi.org/10.3390/genes11020179

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