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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C1QB

Variant:p.G76R

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C1QB

NM_001378156.1:p.G76R

hg38:chr1:22660856 G>C

Associated Papers

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

Topaloglu R et al.

Clinical Rheumatology, 2012

22576477 (PubMed )

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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."