Varaico: Literature-Extracted Genetic Variants

Gene:C1QC
Variant:p.R69*
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C1QC

NM_172369.5:p.R69*

Associated Papers

Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party.

Buso H et al.

Journal of Clinical Immunology, 2024

Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.

Triaille C et al.

Journal of Clinical Immunology, 2024

Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.

Yeo NK et al.

Frontiers in Genetics, 2024

Case Report: Early Onset Systemic Lupus Erythematosus Due to Hereditary C1q Deficiency Treated With Fresh Frozen Plasma.

Zecevic M et al.

Frontiers in Pediatrics, 2021

Complex medical history of a patient with a compound heterozygous mutation in C1QC.

Lubbers R et al.

Lupus, 2019

Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus.

Almlöf JC et al.

Human Genetics, 2019

New C1q mutation in a Tunisian family.

Jlajla H et al.

Immunobiology, 2014

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