Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.A11V
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HBB

NM_000518.5:p.A11V

Associated Papers

A Rare Hemoglobin Variant Detected for the First Time in Türkiye (Hb Iraq-Halabja): Evaluation of the Effect of Variant Hemoglobins on HbA1c Methods.

Balcı T et al.

Hemoglobin, 2025

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

Molecular and Hematological Analysis of Alpha- and Beta-Thalassemia in a Cohort of Mexican Patients.

Rizo-de la Torre LDC et al.

Genetic Testing and Molecular Biomarkers, 2021

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ001

Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain.

Scheps KG et al.

European Journal of Haematology, 2018

Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.

Hassan SM et al.

Hemoglobin, 2015

Repository of mutations from Oman: The entry point to a national mutation database.

Rajab A et al.

F1000research, 2015

Prenatal and newborn screening for hemoglobinopathies.

Hoppe CC

International Journal of Laboratory Hematology, 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."