Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.P126T
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HBB

NM_000518.5:p.P126T

Associated Papers

Ability of the Capillary Electrophoresis-based HbA1c Assay to Detect Rare Hemoglobin Variants.

Olivieri M et al.

Annals of Laboratory Medicine, 2025

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Selvatici R et al.

Genes, 2024

39858575 (PubMed )
Supplement: genes-16-00028-s001.zip › genes-3372072-supplementary.pdf

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-HBB

Scanning the beta-globin gene for mutations in large populations by denaturing capillary and gel electrophoresis.

Li-Sucholeiki XC et al.

Electrophoresis, 2005

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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."