Varaico: Literature-Extracted Genetic Variants

Gene:ZNFX1
Variant:p.E1606fs
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ZNFX1

NM_021035.3:p.E1606fs

Associated Papers

Mendelian susceptibility to mycobacterial diseases: state of the art.

Noma K et al.

Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases, 2022

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

Alawbathani S et al.

Clinical Genetics, 2022

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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