Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.H130P
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AICDA

NM_020661.4:p.H130P

Associated Papers

Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variants.

Abolhassani H et al.

Clinical Genetics, 2020

Comprehensive review of autoantibodies in patients with hyper-IgM syndrome.

Barbouche MR et al.

Cellular & Molecular Immunology, 2018

Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate.

Ouadani H et al.

Molecular Immunology, 2016

Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.

Ouadani H et al.

Immunogenetics, 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."