Varaico: Literature-Extracted Genetic Variants

Gene:COPG1
Variant:p.K652E
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COPG1

NM_016128.4:p.K652E

Associated Papers

Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.

Al-Tamemi S et al.

Journal of Clinical Immunology, 2023

Deficiency in coatomer complex I causes aberrant activation of STING signalling.

Steiner A et al.

Nature Communications, 2022

Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex.

Bainter W et al.

The Journal of Clinical Investigation, 2021

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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."