Varaico: Literature-Extracted Genetic Variants

Gene:C7
Variant:p.E796Fs
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C7

NM_000587.4:p.E796Fs

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

Characterization of a large genomic deletion in four Irish families with C7 deficiency.

Thomas AD et al.

Molecular Immunology, 2012

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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."