Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.K100*
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HBA1

NM_000558.5:p.K100*

Associated Papers

Pyruvate Kinase Deficiency: An Underdiagnosed Cause of Severe Hemolytic Anemia in Iranian Population: Insights From Whole Exome Sequencing of Four Families and Screening of a Population-Specific Database.

Rafat M et al.

International Journal of Laboratory Hematology, 2026

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

An analysis of the distribution and spectrum of alpha thalassemia mutations in Rasht City, North of Iran.

Asghari Ahmadabad M et al.

Frontiers in Pediatrics, 2023

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

First Report of Association Between Rare α-Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C).

Ghadami E et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2019

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

Keikhaei B et al.

Biochemical Genetics, 2018

Molecular Study of Deletional and Nondeletional Mutations on the α-Globin Locus in the Azeri Population of Northwestern Iran.

Derakhshan SM et al.

Hemoglobin, 2016

Point mutations which should not be overlooked in Hb H disease.

Farashi S et al.

Expert Review of Hematology, 2016

Diagnostic pitfalls of less well recognized HbH disease.

Farashi S et al.

Blood Cells, Molecules & Diseases, 2015

Novel mutations responsible for α-thalassemia in Iranian families.

Bayat N et al.

Hemoglobin, 2013

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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."