Varaico: Literature-Extracted Genetic Variants

Gene:AHSP
Variant:p.N75I
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AHSP

NM_016633.4:p.N75I

Associated Papers

Alpha-hemoglobin-stabilizing protein (AHSP): a modulatory factor in β-thalassemia.

Che Yaacob NS et al.

International Journal of Hematology, 2020

A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease.

Surapolchai P et al.

Annals of Hematology, 2017

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: an erythroid molecular chaperone.

Favero ME et al.

Biochemistry Research International, 2011

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

The role of alpha-hemoglobin stabilizing protein in redox chemistry, denaturation, and hemoglobin assembly.

Mollan TL et al.

Antioxidants & Redox Signaling, 2010

Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function.

dos Santos CO et al.

American Journal of Hematology, 2008

AHSP and beta-thalassemia: a possible genetic modifier.

dos Santos CO et al.

Hematology (amsterdam, Netherlands), 2005

The Chaperones Involved in Hemoglobin Synthesis Take the Spotlight: Analysis of AHSP in the Argentinean Population and Review of the Literature.

Scheps KG et al.

Hemoglobin, 0

Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population.

de Melo Campos P et al.

Hematology, Transfusion and Cell Therapy, 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."