Varaico: Literature-Extracted Genetic Variants

Gene:MALT1
Variant:p.A340Splc
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MALT1

NM_006785.4:p.A340Splc

Associated Papers

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

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

Frizinsky S et al.

Journal of Clinical Immunology, 2019

The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex.

Lu HY et al.

Frontiers in Immunology, 2018

Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.

Charbit-Henrion F et al.

Journal of Pediatric Gastroenterology and Nutrition, 2017

Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity.

Pérez de Diego R et al.

The Journal of Allergy and Clinical Immunology, 2015

Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.

Punwani D et al.

Journal of Clinical Immunology, 2015

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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."