Varaico: Literature-Extracted Genetic Variants

Gene:STK4
Variant:p.R342*
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STK4

NM_006282.5:p.R342*

Associated Papers

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Jurgens JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38585811 (PubMed )
Supplement: media-3.xlsx › Sheet1

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.

Guennoun A et al.

Journal of Clinical Immunology, 2021

Genomic and transcriptomic landscape of conjunctival melanoma.

Cisarova K et al.

Plos Genetics, 2020

33383577 (PubMed )
Supplement: pgen.1009201.s006.xlsx › Sheet1

STK4 Deficiency in a Patient with Immune Complex Glomerulonephritis, Salt-Losing Tubulopathy, and Castleman's-Like Disease.

Al-Saud B et al.

Journal of Clinical Immunology, 2019

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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."