Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.*143Q
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HBA1

NM_000558.5:p.*143Q

Associated Papers

The role of untranslated region variants in Mendelian disease: a review.

Wieder N et al.

European Journal of Human Genetics : Ejhg, 2025

Diagnostic Utility of a Multiplex PCR Assay in Detecting Common Mutations of the α-Globin Gene in α-Thalassemia.

Park SN et al.

Anemia, 2025

Characterization of a Novel 71.8 kb α0-Thalassemia Deletion and Subsequent Summary of a Practical Procedure for Thalassemia Molecular Diagnosis.

Xu ML et al.

Hemoglobin, 2020

Diagnosis of the accurate genotype of HKαα carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction.

Chen DM et al.

Chinese Medical Journal, 2020

Analysis of the Genotypes in a Chinese Population with Increased Hb A2 and Low Hematological Indices.

Jiang F et al.

Hemoglobin, 2018

Alpha-thalassaemia.

Harteveld CL et al.

Orphanet Journal of Rare Diseases, 2010

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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."