Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.I1213fs
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F8

NM_000132.4:p.I1213fs

Associated Papers

Whole-exome sequencing reveals genetic variants that may play a role in neurocytomas.

Khowal S et al.

Journal of Neuro-oncology, 2024

Spectrum and origin of mutations in sporadic cases of haemophilia A in China.

Lu Y et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s14.pdf

Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.

Gouw SC et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011

21070499 (PubMed )
Supplement: supplement_1.doc

Mutation analysis of factor VIII in Korean patients with severe hemophilia A.

You CW et al.

International Journal of Hematology, 2010

Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.

Bogdanova N et al.

Human Mutation, 2007

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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."