Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R105_L106Splc
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HBB

NM_000518.5:p.R105_L106Splc

Associated Papers

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.

Hua R et al.

Human Genomics, 2025

The distribution and spectrum of thalassemia variants in GUIYANG region, southern China.

Zhao X et al.

Orphanet Journal of Rare Diseases, 2025

Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.

Zhuang J et al.

Bmc Medical Genomics, 2024

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

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

Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.

Bao X et al.

Human Genomics, 2023

The frequency of HKαα allele in silent deletional α-thalassemia carriers in the Yulin region of southern China using the third-generation sequencing.

Ning S et al.

Gene, 2023

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

The Clinical Significance of the Spectrum of Interactions of the Rare IVS-II-5 G>C (HBB: c.315+5 G>C) Variation with Other β-Thalassemia Mutations in Southern China.

Liao G et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2022

Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study.

Zhuang J et al.

Frontiers in Genetics, 2021

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."