Varaico: Literature-Extracted Genetic Variants

Gene:HBG2
Variant:p.K105_L106Splc
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HBG2

NM_000184.3:p.K105_L106Splc

Associated Papers

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

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

Genetic epidemiology of hemoglobinopathies among Iraqi Kurds.

Al-Allawi N et al.

Journal of Community Genetics, 2021

Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.

Faraon R et al.

Bmc Hematology, 2019

Xmn1-158 γGVariant in B-Thalassemia Intermediate Patients in South-East of Iran.

Miri-Moghaddam E et al.

International Journal of Hematology-oncology and Stem Cell Research, 2017

Frequency of Gγ-globin promoter -158 (C>T) XmnI polymorphism in patients with homozygous/compound heterozygous beta thalassaemia.

Ali N et al.

Hematology/oncology and Stem Cell Therapy, 2015

Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan.

Shamoon RP et al.

Hemoglobin, 2015

Molecular analysis of gamma-globin promoters, HS-111 and 3'HS1, in beta-thalassemia intermedia patients associated with high levels of Hb F.

Hamid M et al.

Hemoglobin, 2009

HBG2 -158 (C>T) polymorphism and its contribution to fetal hemoglobin variability in Iraqi Kurds with beta-thalassemia minor.

Albarawi DJ et al.

Journal of Laboratory Physicians, 0

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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."