Varaico: Literature-Extracted Genetic Variants

Gene:SPPL2A
Variant:p.A443Splc
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SPPL2A

NM_032802.4:p.A443Splc

Associated Papers

Mendelian Susceptibility to Mycobacterial Disease with Signal Peptide Peptidase-like 2A (SPPL2A) Deficiency: A Case Report.

Esmaeilzadeh H et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2024

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.

Khavandegar A et al.

The Journal of Allergy and Clinical Immunology, 2024

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds.

Errami A et al.

Journal of Clinical Immunology, 2023

An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.

Das J et al.

Expert Review of Clinical Immunology, 2021

Mendelian susceptibility to mycobacterial disease: recent discoveries.

Bustamante J

Human Genetics, 2020

Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Rosain J et al.

Immunology and Cell Biology, 2019

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Kong XF et al.

Nature Immunology, 2018

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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."