Varaico: Literature-Extracted Genetic Variants

Gene:C9
Variant:p.M293delFs
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C9

NM_001737.5:p.M293delFs

Associated Papers

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

Molecular mechanisms of complement component C6 deficiency; a hypervariable exon 6 region responsible for three of six reported defects.

Orren A

Clinical and Experimental Immunology, 2000

The molecular basis of C6 deficiency in the western Cape, South Africa.

Hobart MJ et al.

Human Genetics, 1998

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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."