Varaico: Literature-Extracted Genetic Variants

Gene:EPB42
Variant:p.E317delFs
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EPB42

NM_001114134.2:p.E317delFs

Associated Papers

The use of real-time PCR technique in the detection of novel protein 4.2 gene mutations that coexist with thalassaemia alpha in a single patient.

Maciag M et al.

European Journal of Haematology, 2009

The molecular basis of hereditary red cell membrane disorders.

Delaunay J

Blood Reviews, 2007

Protein-4.2 association with band 3 (AE1, SLCA4) in Xenopus oocytes: effects of three natural protein-4.2 mutations associated with hemolytic anemia.

Toye AM et al.

Blood, 2005

Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG).

Beauchamp-Nicoud A et al.

Haematologica, 2000

Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives.

He BJ et al.

Acta Haematologica, 0

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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."