Varaico: Literature-Extracted Genetic Variants

Gene:CD3D
Variant:p.M92Splc
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CD3D

NM_000732.6:p.M92Splc

Associated Papers

Clinical characteristics and genetic features of 35 cases of adverse reactions to Bacillus Calmette-Guérin vaccine in children.

Chen H et al.

Frontiers in Cellular and Infection Microbiology, 2025

Human T cell generation is restored in CD3δ severe combined immunodeficiency through adenine base editing.

McAuley GE et al.

Cell, 2023

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

Cifaldi C et al.

Frontiers in Immunology, 2019

A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID.

Gil J et al.

The Journal of Clinical Investigation, 2011

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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."