Varaico: Literature-Extracted Genetic Variants

Gene:MALT1
Variant:p.E806D
Back to variants list

MALT1

NM_006785.4:p.E806D

Associated Papers

Loss of MALT1 Function in a Patient With Combined Immunodeficiency: a Novel Pathogenic Variant and Immunological Insights.

Tian Z et al.

Journal of Clinical Immunology, 2025

Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience.

Aygun A et al.

Immunologic Research, 2024

MALT1 substrate cleavage: what is it good for?

Moud BN et al.

Frontiers in Immunology, 2024

The role of the CBM complex in allergic inflammation and disease.

DeVore SB et al.

The Journal of Allergy and Clinical Immunology, 2022

Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency.

Sefer AP et al.

Journal of Clinical Immunology, 2022

Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant.

Kutukculer N et al.

The Journal of Allergy and Clinical Immunology, 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."