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Advances in NGS enhance our ability to identify rare genetic variants that contribute to DR susceptibility and progression (Shtir et al., 2016)

Hoevenaars FPM, Wopereis S, Plugues M, La Terra P, Batchnarova N

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Because the hinge and latch hypothesis predicts that the wild-type-mutant heterodimer does not support Nrf2 ubiquitination, a heterozygous missense mutation would result in the 75% reduction of Keap1 activity

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