Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.G342D
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ACTB

NM_001101.5:p.G342D

Associated Papers

Immune-related actinopathies at the cross-road of immunodeficiency, autoimmunity and autoinflammation.

Dupré L et al.

Nature Reviews. Immunology, 2025

40931027 (PubMed )
Supplement: 41577_2025_1214_MOESM1_ESM.pdf

β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination.

Reed AE et al.

Journal of Immunology (baltimore, Md. : 1950), 2024

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