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In silico analysis of missense variants of the C1qA gene related to infection and autoimmune diseases

13 May 2022

Abstract excerpt

C1q is a key activator of the classical pathway of the complement system and exerts consequences relating to opsonization and phagocytosis. The C1qA gene is one of three genes encoding the C1q molecule. Defects in C1q, and especially in C1qA, have been linked to an increased susceptibility to infection, sepsis, and systemic lupus erythematosus. These defects could arise from missense single nucleotide...

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PMID: 36212588
DOI: 10.1016/j.jtumed.2022.04.014

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