Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.Q274delFs
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C6

NM_000065.5:p.Q274delFs

Associated Papers

Complement component C6 deficiency in a Spanish family: implications for clinical and molecular diagnosis.

Moya-Quiles MR et al.

Gene, 2013

Complete deficiency of the sixth complement component (C6Q0), susceptibility to Neisseria meningitidis infections and analysis of the frequencies of C6Q0 gene defects in South Africans.

Orren A et al.

Clinical and Experimental Immunology, 2012

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

Deficiency of the sixth component of complement and susceptibility to Neisseria meningitidis infections: studies in 10 families and five isolated cases.

Orren A et al.

Immunology, 1987

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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."