Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.K128E
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HBA1

NM_000558.5:p.K128E

Associated Papers

Be alert to a spurious HbA1c: A rare alpha1-globin gene mutation.

Collins L et al.

Journal of Paediatrics and Child Health, 2024

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

Unexpected HbA1c results in the presence of three rare hemoglobin variants.

Xu J et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2021

Identification of a new hemoglobin variant Hb Liuzhou [HBA1:C.182A→G] by MALDI-TOF mass spectrometry during HbA1c measurement.

Xu A et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2020

Falsely high HbA1c value due to a novel α1-globin gene mutation: Hb shantou [α127(H10)Lys > Glu; HBA1: c.382 A > G].

Xu A et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 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."