Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.G16R
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HBA1

NM_000558.5:p.G16R

Associated Papers

Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening.

Long J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Haemoglobin Ottawa, sickle cell trait and vaso-occlusive crises.

Bobillier C et al.

Ejhaem, 2024

Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project.

Zheng X et al.

Molecular Biology Reports, 2024

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

Molecular epidemiological investigation of abnormal hemoglobin in Shaokwan region, southern China.

Yang H et al.

Hematology (amsterdam, Netherlands), 2022

A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family.

Zhao RQ et al.

International Journal of Laboratory Hematology, 2021

Molecular characterization of hemoglobinopathies and thalassemias in Northern Guangdong Province, China.

Ma Z et al.

Medicine, 2021

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6

Alpha chain hemoglobins with electrophoretic mobility similar to that of hemoglobin S in a newborn screening program.

Silva MR et al.

Revista Brasileira De Hematologia E Hemoterapia, 2013

Development of a high-resolution melting method for the detection of hemoglobin alpha variants.

Shih HC et al.

Clinical Biochemistry, 2010

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."