Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.S588*
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F12

NM_000505.4:p.S588*

Associated Papers

A novel homozygous frameshift mutation (p.Lys365Glnfs*69) in a family with hereditary factor XII deficiency: a case report.

Li C et al.

Journal of Hematopathology, 2025

[Analysis of F12 gene variants and molecular mechanisms in patients with coagulation factor Ⅻ deficiency].

Fang S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

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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."