Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.K40insFs
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IRAK4

NM_016123.4:p.K40insFs

Associated Papers

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.

Nishimura S et al.

Journal of Clinical Immunology, 2021

Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.

Ohnishi H et al.

Journal of Clinical Immunology, 2017

Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report.

Takada H et al.

Medicine, 2016

Functional assessment of the mutational effects of human IRAK4 and MyD88 genes.

Yamamoto T et al.

Molecular Immunology, 2014

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.

Picard C et al.

Medicine, 2010

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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."