Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.D76H
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HBA1

NM_000558.5:p.D76H

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

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6

A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.

Khalil MSM et al.

Hemoglobin, 2020

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

Keikhaei B et al.

Biochemical Genetics, 2018

Hemoglobin Q-Iran detected in family members from Northern Iran: a case report.

Khorshidi M et al.

Journal of Medical Case Reports, 2012

Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.

Moradkhani K et al.

Annals of Hematology, 2009

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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."