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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...
Autores principales: | Green, David J., Sallah, Shalaw R., Ellingford, Jamie M., Lovell, Simon C., Sergouniotis, Panagiotis I. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
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 |
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