Varaico: Literature-Extracted Genetic Variants

Gene:C7
Variant:p.A784delFs
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C7

NM_000587.4:p.A784delFs

Associated Papers

Complement factor 7 gene mutations in relation to meningococcal infection and clinical recurrence of meningococcal disease.

Kuijpers TW et al.

Molecular Immunology, 2010

Two mutations of the C7 gene, c.1424G > A and c.281-1G > T, in two Korean families.

Kang HJ et al.

Journal of Clinical Immunology, 2006

Complement component C7 deficiency in two Spanish families.

Barroso S et al.

Immunology, 2004

Complement component C7 deficiency in a Spanish family.

Vázquez-Bermúdez MF et al.

Clinical and Experimental Immunology, 2003

Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

Fernie BA 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."