Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.S80fs
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C2

NM_000063.6:p.S80fs

Associated Papers

Yao syndrome in a child with C2 deficiency.

Cresoe-Ortiz S et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2024

Novel Pathogenic C2 Variant Associated with Disseminated GBS Infection.

Phillips EC et al.

Journal of Clinical Immunology, 2020

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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."