Varaico: Literature-Extracted Genetic Variants

Gene:TLR8
Variant:p.G572D
Back to variants list

TLR8

NM_138636.5:p.G572D

Associated Papers

Toll-like receptor 8 deficiency syndrome result in diffuse pigmented skin rash and autoinflammatory syndrome.

Liu JW et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2025

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

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

Aluri J et al.

Blood, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."