Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.C78delFs
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C6

NM_000065.5:p.C78delFs

Associated Papers

Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease.

Zhang AQ et al.

Experimental and Therapeutic Medicine, 2021

Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family.

Parham KL et al.

Molecular Immunology, 2007

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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."