Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R105_L106Splc
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HBB

NM_000518.5:p.R105_L106Splc

Associated Papers

Genotype-Phenotype Correlation of Seven Known and Novel β-Globin Gene Variants.

Singha K et al.

International Journal of Molecular Sciences, 2025

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

Zhao X et al.

Orphanet Journal of Rare Diseases, 2025

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

The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants.

Feng J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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

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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."