Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.H234_K238Fs
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CARD11

NM_032415.7:p.H234_K238Fs

Associated Papers

A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family.

Desjardins M et al.

Frontiers in Immunology, 2018

30619304 (PubMed )
Supplement: Data_Sheet_1.pdf
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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."