Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.Q274fs
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C6

NM_000065.5:p.Q274fs

Associated Papers

Monogenic disorders of immunity: Common variants are not so rare.

Béziat V et al.

Cell Genomics, 2026

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

Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.

El Sissy C et al.

Frontiers in Immunology, 2019

31440263 (PubMed )
Supplement: Table_1.DOCX
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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."