Varaico: Literature-Extracted Genetic Variants

Gene:AHSP
Variant:p.M45K
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AHSP

NM_016633.4:p.M45K

Associated Papers

Mutation near the binding interfaces at α-hemoglobin stabilizing protein is highly pathogenic.

Borgio JF et al.

American Journal of Translational Research, 2016

[Role of alpha-hemoglobin molecular chaperone in the hemoglobin formation and clinical expression of some hemoglobinopathies].

Vasseur C et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2015

Alpha-hemoglobin stabilizing protein (AHSP), a kinetic scheme of the action of a human mutant, AHSPV56G.

Brillet T et al.

The Journal of Biological Chemistry, 2010

AHSP and beta-thalassemia: a possible genetic modifier.

dos Santos CO et al.

Hematology (amsterdam, Netherlands), 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."