Varaico: Literature-Extracted Genetic Variants

Gene:TLR8
Variant:p.P432L
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TLR8

NM_138636.5:p.P432L

Associated Papers

Clinical relevance of mosaic variants detected by exome sequencing.

Ghosh R et al.

The Journal of Allergy and Clinical Immunology, 2026

Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.

Schmitz EG et al.

The Journal of Allergy and Clinical Immunology, 2026

Somatic mosaicism in genetic errors of immunity.

Cooper MA

The Journal of Allergy and Clinical Immunology, 2025

Erythroid-intrinsic activation of TLR8 impairs erythropoiesis in inherited anemia.

Liang J et al.

Nature Communications, 2024

TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins.

Fejtkova M et al.

American Journal of Hematology, 2022

Toll-Like Receptor Signaling in the Establishment and Function of the Immune System.

Aluri J et al.

Cells, 2021

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.

Aluri J et al.

Blood, 2021

Genetic Mosaicism as a Cause of Inborn Errors of Immunity.

Aluri J et al.

Journal of Clinical Immunology, 2021

Asthma, recurrent infections and IgG2 deficiency.

Silk H et al.

Annals of Allergy, 1988

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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."