Varaico: Literature-Extracted Genetic Variants

Gene:ZNFX1
Variant:p.S959*
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ZNFX1

NM_021035.3:p.S959*

Associated Papers

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

Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.

Alawbathani S et al.

Clinical Genetics, 2022

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

Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.

Le Voyer T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

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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."