Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.E23_G25delFs
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HBB

NM_000518.5:p.E23_G25delFs

Associated Papers

Active spread of β-thalassemia beyond the thalassemia belt: A study on a Russian population.

Shchemeleva E et al.

Clinical Genetics, 2025

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

Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.

Mousavi SS et al.

Biomed Research International, 2024

The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.

Bazazzadegan N et al.

Hemoglobin, 2023

Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity.

Abbasali FH et al.

Balkan Journal of Medical Genetics : Bjmg, 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-Full_dataset

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.

Sallevelt SCEH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations.

Aliyeva G et al.

Annals of Human Genetics, 2020

HV2 fragment mutations in β-thalassemia patients and a new base pair insertion of high-altitude cases.

Al Thwiby NM et al.

American Journal of Blood Research, 2020

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.

Nadkarni AH et al.

International Journal of Laboratory Hematology, 2019

Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population.

Abedini SS et al.

Hemoglobin, 2018

Interaction of an α-Globin Gene Triplication with β-Globin Gene Mutations in Iranian Patients with β-Thalassemia Intermedia.

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."