Varaico: Literature-Extracted Genetic Variants

Gene:FADD
Variant:p.R117H
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FADD

NM_003824.4:p.R117H

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

Somatic mutations in autoinflammatory and autoimmune disease.

Torreggiani S et al.

Nature Reviews. Rheumatology, 2024

Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.

Pellé O et al.

The Journal of Allergy and Clinical Immunology, 2024

Autoimmune lymphoproliferative immunodeficiencies (ALPIDs): A proposed approach to redefining ALPS and other lymphoproliferative immune disorders.

Magerus A et al.

The Journal of Allergy and Clinical Immunology, 2024

Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.

Rensing-Ehl A et al.

The Journal of Allergy and Clinical Immunology, 2024

Expanding the clinical phenotype of FADD deficiency with a novel mutation and its role in Fas-mediated apoptotic pathway.

Setia P et al.

British Journal of Haematology, 2023

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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."