Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.P303_P304del2
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F12

NM_000505.4:p.P303_P304del2

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

[Genetic analysis of hereditary factor VII deficiency from a Chinese pedigree].

Wu Y et al.

Zhonghua Yi Xue Za Zhi, 2000

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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."