Varaico: Literature-Extracted Genetic Variants

Gene:C7
Variant:p.C728*
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C7

NM_000587.4:p.C728*

Associated Papers

Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.

Balduit A et al.

Frontiers in Immunology, 2023

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

A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency.

Horiuchi T et al.

Journal of Human Genetics, 1999

Genetic bases of human complement C7 deficiency.

Nishizaka H et al.

Journal of Immunology (baltimore, Md. : 1950), 1996

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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."