Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.P52H
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HBB

NM_000518.5:p.P52H

Associated Papers

A Rare Hemoglobin Variant Detected in a Pregnant Chinese Woman.

Li YY et al.

Clinical Laboratory, 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 Rare Hemoglobin Variant (β51Pro → His) Causing Misleading Measurements of Hemoglobin A1c.

Mackley MP et al.

Journal of the Endocrine Society, 2022

Silent hemoglobin variant during capillary electrophoresis: A case report.

Yuan Y et al.

Journal of Diabetes Investigation, 2020

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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."