Varaico: Literature-Extracted Genetic Variants

Gene:MALT1
Variant:p.R354delFs
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MALT1

NM_006785.4:p.R354delFs

Associated Papers

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

Sefer AP et al.

Journal of Clinical Immunology, 2022

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

Frizinsky S et al.

Journal of Clinical Immunology, 2019

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

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."