Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL7
Variant:p.R220C
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ANGPTL7

NM_021146.4:p.R220C

Associated Papers

Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.

Lo Faro V et al.

Cell Reports. Medicine, 2024

38382466 (PubMed )
Supplement: mmc4.xlsx › Sheet1

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

Aboobakar IF et al.

Human Molecular Genetics, 2023

FinnGen provides genetic insights from a well-phenotyped isolated population.

Kurki MI et al.

Nature, 2023

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

Tanigawa Y et al.

Plos Genetics, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."