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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINC1

Variant:p.R78G

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SERPINC1

NM_000488.4:p.R78G

hg38:chr1:173914729 G>C

Associated Papers

Clinical and Molecular Characterization of Nine Novel Antithrombin Mutations.

Kállai J et al.

International Journal of Molecular Sciences, 2024

38474138 (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."