Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.C867R
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C6

NM_000065.5:p.C867R

Associated Papers

Comprehensive Update and Revision of Nomenclature on Complement C6 and C7 Variants.

Massri M et al.

Journal of Immunology (baltimore, Md. : 1950), 2022

Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease.

Zhang AQ et al.

Experimental and Therapeutic Medicine, 2021

Quantitative multiplex profiling of the complement system to diagnose complement-mediated diseases.

Willems E et al.

Clinical & Translational Immunology, 2020

33318796 (PubMed )
Supplement: CTI2-9-e1225-s001.pdf

Compound heterozygous mutations in the C6 gene of a child with recurrent infections.

Westra D et al.

Molecular Immunology, 2014

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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."