Varaico: Literature-Extracted Genetic Variants

Gene:ANGPT1
Variant:p.R494*
Back to variants list

ANGPT1

NM_001146.5:p.R494*

Associated Papers

Insights From the First 820 Patients From the Brazilian Multicenter Registry of Hereditary Angioedema: The Key Role of Genetic Testing and Targeted Therapies.

Ferriani MPL et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

Exploring the Genetic Landscape of Childhood Glaucoma.

Pan Y et al.

Children (basel, Switzerland), 2024

Altered Urinary Metabolomics in Hereditary Angioedema.

Wang X et al.

Metabolites, 2022

Updates on the molecular genetics of primary congenital glaucoma (Review).

Ling C et al.

Experimental and Therapeutic Medicine, 2020

Angiopoietin-1 is required for Schlemm's canal development in mice and humans.

Thomson BR et al.

The Journal of Clinical Investigation, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."