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Article

Rare protective variants and glaucoma-relevant cell stressors modulate Angiopoietin-like 7 expression

23 May 2023

Abstract excerpt

Rare missense and nonsense variants in the Angiopoietin-like 7 (ANGPTL7) gene confer protection from primary open-angle glaucoma (POAG), though the functional mechanism remains uncharacterized. Interestingly, a larger variant effect size strongly correlates with in silico predictions of increased protein instability (r = -0.98), suggesting that protective variants lower ANGPTL7 protein levels. Here, we show that...

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PMID: 37220876
DOI: 10.1093/hmg/ddad083

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