Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.H53Q
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F11

NM_000128.4:p.H53Q

Associated Papers

Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency.

Choi SJ et al.

Annals of Laboratory Medicine, 2014

Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

Kim J et al.

Clinical Genetics, 2012

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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."