Varaico: Literature-Extracted Genetic Variants

Gene:C1QA
Variant:p.G31R
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C1QA

NM_015991.4:p.G31R

Associated Papers

Monogenic lupus with neuroregression in an infant due to rare compound heterozygous variants in C1QA gene: Case-based review.

Jain H et al.

Modern Rheumatology Case Reports, 2025

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."