Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.K1105*
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C3

NM_000064.4:p.K1105*

Associated Papers

Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency.

da Silva KR et al.

Immunobiology, 2016

The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency.

Kida M et al.

Blood Cells, Molecules & Diseases, 0

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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."