Varaico: Literature-Extracted Genetic Variants

Gene:C1QC
Variant:p.G76R
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C1QC

NM_172369.5:p.G76R

Associated Papers

Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.

Haslak F et al.

The Journal of Rheumatology, 2024

C1q deficiency: identification of a novel missense mutation and treatment with fresh frozen plasma.

Topaloglu R et al.

Clinical Rheumatology, 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."