Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.W15*
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HBA1

NM_000558.5:p.W15*

Associated Papers

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-Full_dataset

Clinical and genetic characteristics of hemoglobin H disease in Iran.

Abolghasemi H et al.

Pediatric Hematology and Oncology, 2022

Molecular Genetic Analysis of α-Thalassemia in Hamadan Province, West Iran.

Moradi K et al.

Hemoglobin, 2020

Iranian patients with hemoglobin H disease: genotype-phenotype correlation.

Paridar M et al.

Molecular Biology Reports, 2019

The Spectrum of α-Thalassemia Mutations in the Lak Population of Iran.

Moradi K et al.

Hemoglobin, 2019

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

Keikhaei B et al.

Biochemical Genetics, 2018

Molecular basis of α-thalassemia.

Farashi S et al.

Blood Cells, Molecules & Diseases, 2018

Evaluation of α-Globin Gene Mutations Among Different Ethnic Groups in Khuzestan Province, Southwest Iran.

Khosravi A et al.

Hemoglobin, 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

The spectrum of α-thalassemia mutations in the Kurdish population of Northeastern Iraq.

Al-Allawi NA et al.

Hemoglobin, 2013

Novel mutations responsible for α-thalassemia in Iranian families.

Bayat N et al.

Hemoglobin, 2013

Genotype-phenotype correlation in Iranian patients with Hb H disease.

Ebrahimkhani S et al.

Hemoglobin, 2011

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."