Varaico: Literature-Extracted Genetic Variants

Gene:MALT1
Variant:p.I600N
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MALT1

NM_006785.4:p.I600N

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

A horse or a zebra? Unusual manifestations of common cutaneous infections in primary immunodeficiency pediatric patients.

Ollech A et al.

Frontiers in Pediatrics, 2023

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

Sefer AP et al.

Journal of Clinical Immunology, 2022

Progressive B cell depletion in human MALT1 deficiency.

Sonoda M et al.

Clinical and Experimental Immunology, 2021

Bacillus Calmette-Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation.

NaserEddin A et al.

Journal of Clinical Immunology, 2021

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire.

Frizinsky S et al.

Journal of Clinical Immunology, 2019

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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."