Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.K18N
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HBB

NM_000518.5:p.K18N

Associated Papers

Atypical Interference in Hb A1c Measurements Might Be Due to Mosaic Expression of Hemoglobin Variants.

Strålfors A et al.

Clinical Chemistry, 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-Full_dataset

A Mosaic Expression of a Hb J-Amiens (HBB: c.54G > T; p.Lys18Asn) and its Interference with Hb A1c Analysis.

Schiemsky T et al.

Hemoglobin, 2015

Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.

van Zwieten R et al.

Hemoglobin, 2014

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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."