Varaico: Literature-Extracted Genetic Variants

Gene:C5
Variant:p.Q399delFs
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C5

NM_001735.3:p.Q399delFs

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

[Investigation of the complement system in clinical practice].

Frémeaux-Bacchi V et al.

Annales De Medecine Interne, 2003

Restricted genetic defects underlie human complement C6 deficiency.

Dragon-Durey MA et al.

Clinical and Experimental Immunology, 2003

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

High prevalence of complement component C6 deficiency among African-Americans in the south-eastern USA.

Zhu Z et al.

Clinical and Experimental Immunology, 2000

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

Hobart MJ et al.

Human Genetics, 1998

Molecular defects leading to human complement component C6 deficiency in an African-American family.

Zhu ZB et al.

Clinical and Experimental Immunology, 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."