Varaico: Literature-Extracted Genetic Variants

Gene:RAC2
Variant:p.P29R
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RAC2

NM_002872.5:p.P29R

Associated Papers

Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant-activating mutation.

Ashby L et al.

Clinical & Translational Immunology, 2024

Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients.

Hsu AP

Clinical and Experimental Immunology, 2023

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.

Duan X et al.

Journal of Clinical Immunology, 2023

A Novel RAC2 Mutation Causing Combined Immunodeficiency.

Zhang L et al.

Journal of Clinical Immunology, 2023

Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.

Zhang L et al.

Journal of Clinical Immunology, 2022

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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."