Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.M2143_V2144Splc
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F8

NM_000132.4:p.M2143_V2144Splc

Associated Papers

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index

An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A.

Xia Z et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2018

Factor VIII gene mutations profile in 148 Chinese hemophilia A subjects.

Xue F et al.

European Journal of Haematology, 2010

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.

Citron M et al.

Human Mutation, 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."