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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C1S

Variant:p.R331H

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C1S

NM_001734.5:p.R331H

hg38:chr12:7067043 G>A

Associated Papers

Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus.

Misztal MC et al.

The Journal of Rheumatology, 2023

36379578 (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."