Varaico: Literature-Extracted Genetic Variants

Gene:C1QC
Variant:p.S7S
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C1QC

NM_172369.5:p.S7S

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients.

Dias A et al.

Annals of Clinical and Translational Neurology, 2019

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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."