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Filters: Keyword is Loss of Function Mutation [Clear All Filters]
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. PLoS Genet 16, e1008682 (2020).
A common loss-of-function variant is associated with lower vitamin B concentration in African Americans. Blood 131, 2859-2863 (2018).