Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.E315Q
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IKBKG

NM_001099857.5:p.E315Q

Associated Papers

Cutaneous squamous cell carcinoma, thyroid cancer and Langerhans cell histiocytosis in a patient with X-linked recessive Mendelian susceptibility to mycobacterial diseases with a nuclear factor-κB essential modifier mutation.

Inoue Y et al.

The Journal of Dermatology, 2018

Primary immunodeficiency in Japan; epidemiology, diagnosis, and pathogenesis.

Takada H

Pediatrics International : Official Journal of the Japan Pediatric Society, 2013

Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan.

Hoshina T et al.

Journal of Clinical Immunology, 2011

Structural basis for recognition of diubiquitins by NEMO.

Lo YC et al.

Molecular Cell, 2009

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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."