Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.E117*
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HBA1

NM_000558.5:p.E117*

Associated Papers

Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.

Ozalp O et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024

A Novel Mutation at HBA1: c.349G>T Causing α-Thalassemia in a Chinese Family.

Yin Z et al.

Hemoglobin, 2021

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."