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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C3

Variant:p.L1143V

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C3

NM_000064.4:p.L1143V

hg38:chr19:6690691 G>C

Associated Papers

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Martín Merinero H et al.

Blood, 2021

34189567 (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."