Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.N69D
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HBA2

NM_000517.6:p.N69D

Associated Papers

Evaluation of interference from 16 hemoglobin variants on hemoglobin A1c measurement by five methods.

Yang X et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 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

A novel hemoglobin variant found on the α1 chain: Hb KSVGH (HBA1: p.Lys57_Gly58insSerHisGlySerAlaGlnValLys).

Wang MC et al.

Hemoglobin, 2015

Molecular epidemiological survey of hemoglobinopathies in the Wuxi region of Jiangsu Province, eastern China.

Lin M et al.

Hemoglobin, 2013

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China.

Xian J et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 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."