Varaico: Literature-Extracted Genetic Variants

Gene:C9
Variant:p.L315insFs
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C9

NM_001737.5:p.L315insFs

Associated Papers

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.

Fusco F et al.

Human Molecular Genetics, 2004

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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."