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Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease. Nat Commun 9, 1613 (2018).
ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. J Am Coll Cardiol 69, 2054-2063 (2017).
Heterozygous Gene Deficiency and Risk of Coronary Artery Disease. Circ Genom Precis Med 13, 417-423 (2020).
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. PLoS Genet 16, e1008629 (2020).
A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).