Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.W15R
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HBA2

NM_000517.6:p.W15R

Associated Papers

Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test.

Nik Mohd Hasan NFF et al.

International Journal of Laboratory Hematology, 2025

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Selvatici R et al.

Genes, 2024

39858575 (PubMed )
Supplement: genes-16-00028-s001.zip › genes-3372072-supplementary.pdf

Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.

Thaker P et al.

International Journal of Laboratory Hematology, 2024

In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.

Horri-Naceur A et al.

Hemoglobin, 2020

Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.

Keikhaei B et al.

Biochemical Genetics, 2018

In-Silico Computing of the Most Deleterious nsSNPs in HBA1 Gene.

AbdulAzeez S et al.

Plos One, 2016

Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion.

Kattamis A et al.

Hemoglobin, 2015

Hb Dartmouth (HBA2: c.200T>C): An α2-Globin Gene Associated with Hb H Disease in One Homozygous Patient.

Farashi S et al.

Hemoglobin, 2015

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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."