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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C1QB

Variant:p.G90D

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C1QB

NM_000491.5:p.G90D

hg38:chr1:22660893 G>A

Associated Papers

Identification of a Novel Homozygous C1QB Mutation in an Iranian Girl: Expanding the Clinical Spectrum of C1q Deficiency.

Gorjizadeh N et al.

International Journal of Immunogenetics, 2025

40506420 (PubMed )

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