Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.A1807T
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F5

NM_000130.5:p.A1807T

Associated Papers

Case Report: Novel Mutation of F5 With Maternal Uniparental Disomy Causes Severe Congenital Factor V Deficiency.

Cheng L et al.

Frontiers in Pediatrics, 2022

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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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."