Varaico: Literature-Extracted Genetic Variants

Gene:FGB
Variant:p.E38_G39Splc
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FGB

NM_005141.5:p.E38_G39Splc

Associated Papers

A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.

Davis RL et al.

Human Mutation, 2009

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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."