Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.C94F
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HBB

NM_000518.5:p.C94F

Associated Papers

Genetic architecture of the murine red blood cell proteome reveals central role of hemoglobin beta cysteine 93 in maintaining redox balance.

Keele GR et al.

Cell Genomics, 2025

Genetic architecture of the red blood cell proteome in genetically diverse mice reveals central role of hemoglobin beta cysteine redox status in maintaining circulating glutathione pools.

Keele GR et al.

Biorxiv : the Preprint Server for Biology, 2025

The spectrum of beta-thalassemia mutations in the 22 Arab countries: a systematic review.

Khan AM et al.

Expert Review of Hematology, 2021

Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients.

Aldakeel SA et al.

Archives of Medical Science : Ams, 2020

Hemoglobin A2 (HbA2) has a measure of unreliability in diagnosing β-thalassemia trait (β-TT).

Al-Amodi AM et al.

Current Medical Research and Opinion, 2018

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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."