Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.L396_L397Splc
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IRAK4

NM_016123.4:p.L396_L397Splc

Associated Papers

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

Nishimura S et al.

Journal of Clinical Immunology, 2021

33083971 (PubMed )
Supplement: 10875_2020_885_MOESM1_ESM.docx

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4.

Alsina L et al.

Nature Immunology, 2014

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

Picard C et al.

Medicine, 2010

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.

de Beaucoudrey L et al.

The Journal of Experimental Medicine, 2008

18591412 (PubMed )
Supplement: jem.20080321_5.pdf

Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity.

Ku CL et al.

The Journal of Experimental Medicine, 2007

IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.

Ku CL et al.

Journal of Medical Genetics, 2007

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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."