Varaico: Literature-Extracted Genetic Variants

Gene:ADGRE2
Variant:p.C492Y
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ADGRE2

NM_013447.4:p.C492Y

Associated Papers

Unraveling angioedema: diagnostic challenges and emerging therapies.

Johnson F et al.

Frontiers in Immunology, 2025

Investigating the role of non-synonymous variant D67N of ADGRE2 in chronic myeloid leukemia.

Afzal A et al.

Bmc Cancer, 2024

Genetic Variants Leading to Urticaria and Angioedema and Associated Biomarkers.

Lyons JJ et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2023

Mast Cell Activation Syndromes: Collegium Internationale Allergologicum Update 2022.

Valent P et al.

International Archives of Allergy and Immunology, 2022

Genetic Regulation of Tryptase Production and Clinical Impact: Hereditary Alpha Tryptasemia, Mastocytosis and Beyond.

Sprinzl B et al.

International Journal of Molecular Sciences, 2021

Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis.

Nedoszytko B et al.

International Journal of Molecular Sciences, 2021

Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia.

Le QT et al.

The Journal of Experimental Medicine, 2019

Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease.

Ma M et al.

Cold Spring Harbor Perspectives in Biology, 2017

Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

Boyden SE et al.

The New England Journal of Medicine, 2016

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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."