Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.E1347_K1348insFs
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F8

NM_000132.4:p.E1347_K1348insFs

Associated Papers

Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A.

Ravanbod S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

Hb Canterbury [beta112(G14)Cys-->Phe]: a new, mildly unstable variant.

Brennan SO et al.

Hemoglobin, 2002

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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."