Varaico: Literature-Extracted Genetic Variants

Gene:ZNFX1
Variant:p.R334Q
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ZNFX1

NM_021035.3:p.R334Q

Associated Papers

The human disease-associated gene ZNFX1 controls inflammation through inhibition of the NLRP3 inflammasome.

Huang J et al.

The Embo Journal, 2024

Updates of cancer hallmarks in patients with inborn errors of immunity.

Wang Y et al.

Current Opinion in Allergy and Clinical Immunology, 2022

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

Alawbathani S et al.

Clinical Genetics, 2022

Retinoblastoma from human stem cell-derived retinal organoids.

Norrie JL et al.

Nature Communications, 2021

34315877 (PubMed )
Supplement: 41467_2021_24781_MOESM7_ESM.xlsx › WGS_retinoblastoma
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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."