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Filters: Keyword is Mutation, Missense [Clear All Filters]
A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature 582, 234-239 (2020).
Negative selection in humans and fruit flies involves synergistic epistasis. Science 356, 539-542 (2017).
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. PLoS Genet 16, e1008682 (2020).