Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.S103R
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HBA1

NM_000558.5:p.S103R

Associated Papers

Genetic Analysis and Clinical Relevance of HBA1:c.305T > C (Leu > Pro): A Novel Variant Linked to α-Thalassemia.

Zhou L et al.

Hemoglobin, 2025

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBA1

Twelve Cases of Hb Manitoba [α102(G9)Ser→Arg]: the Fluctuation in the Variant Expression.

Khalil MSM et al.

Hemoglobin, 2020

Hb Manitoba [α102(G9)Ser→Arg] in Pasifika: Tongan Case Report.

Pullon BM et al.

Hemoglobin, 2020

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ et al.

Hemoglobin, 2016

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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."