Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.P3A
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C2

NM_000063.6:p.P3A

Associated Papers

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.

Teresa-Rodrigo ME et al.

International Journal of Molecular Sciences, 2014

The penta-EF-hand protein ALG-2 interacts with a region containing PxY repeats in Alix/AIP1, which is required for the subcellular punctate distribution of the amino-terminal truncation form of Alix/AIP1.

Shibata H et al.

Journal of Biochemistry, 2004

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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."