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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:F8

Variant:p.R590S

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F8

NM_000132.4:p.R590S

hg38:chrX:154954025 C>A

Associated Papers

A Naturally Occurring Gain-of-Function Mutation in Factor VIII.

Wischmeyer JT et al.

The New England Journal of Medicine, 2025

40802951 (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."