Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.S2192Splc
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F8

NM_000132.4:p.S2192Splc

Associated Papers

Spectrum of F8 gene mutations in haemophilia A patients from Slovenia.

Debeljak M et al.

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

Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum. Mutation in brief no. 241. Online.

Strmecki L et al.

Human Mutation, 1999

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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."