Varaico: Literature-Extracted Genetic Variants

Gene:CCDC22
Variant:p.H10Q
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CCDC22

NM_014008.5:p.H10Q

Associated Papers

Identification of a novel CCDC22 mutation in a patient with severe Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia.

Yamashita Y et al.

International Journal of Hematology, 2019

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.

Starokadomskyy P et al.

The Journal of Clinical Investigation, 2013

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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."