Article
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Genes - 9 Feb 2020
Green David J, Sallah Shalaw R, Ellingford Jamie M, Lovell Simon C, Sergouniotis Panagiotis I
Abstract excerpt
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 publicly-available genomic and transcriptomic datasets to gain insights into variable penetrance in IED. Variants in a...
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