Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.C150F
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CARD11

NM_032415.7:p.C150F

Associated Papers

Reversion Mosaicism in Primary Immunodeficiency Diseases.

Miyazawa H et al.

Frontiers in Immunology, 2021

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.

Fuchs S et al.

Blood, 2015

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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."