Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.N103delFs
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HBB

NM_000518.5:p.N103delFs

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

[Study of the types of mutations of Thalassemia in Shanghai area].

Gu Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia.

Xu Z et al.

Archives of Pathology & Laboratory Medicine, 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

Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.

Liang Q et al.

Clinical Chemistry, 2023

Application of third-generation sequencing for genetic testing of thalassemia in Guizhou Province, Southwest China.

Wu J et al.

Hematology (amsterdam, Netherlands), 2022

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.

Luo S et al.

Journal of Human Genetics, 2022

Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.

Luo S et al.

Journal of Human Genetics, 2022

Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China.

Luo H et al.

Frontiers in Genetics, 2022

Identification of rare thalassemia variants using third-generation sequencing.

Liu Q et al.

Frontiers in Genetics, 2022

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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."