Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.E221K
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CARD9

NM_052813.5:p.E221K

Associated Papers

Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study.

Zou J et al.

Frontiers in Neurology, 2023

Deep resequencing of 131 Crohn's disease associated genes in pooled DNA confirmed three reported variants and identified eight novel variants.

Hong SN et al.

Gut, 2016

Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.

Visschedijk MC et al.

Plos One, 2016

Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.

Takezaki S et al.

Journal of Immunology (baltimore, Md. : 1950), 2012

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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."