Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.A148Splc
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C2

NM_000063.6:p.A148Splc

Associated Papers

Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.

Agrawal S et al.

Human Molecular Genetics, 2005

Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene.

El-Maarri O et al.

Journal of Thrombosis and Haemostasis : Jth, 2005

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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."