Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL2
Variant:p.A689del1
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CARMIL2

NM_001013838.3:p.A689del1

Associated Papers

CARMIL2 deficiency disrupts activation-induced metabolic reprogramming in T cells and is partially rescued by glutamine supplementation.

Kabha M et al.

The Journal of Allergy and Clinical Immunology, 2025

Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation.

Shamriz O et al.

Clinical and Experimental Immunology, 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."