Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.S90_C94delFs
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HBB

NM_000518.5:p.S90_C94delFs

Associated Papers

Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read Sequencing.

Zhou X et al.

Human Mutation, 2026

Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.

Wan Y et al.

Journal of Clinical Laboratory Analysis, 2024

39317177 (PubMed )
Supplement: JCLA-38-e25104-s001.xlsx › Mutations

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

Molecular epidemiological and hematological profile of thalassemia in the Dongguan Region of Guangdong Province, Southern China.

Peng Q et al.

Journal of Clinical Laboratory Analysis, 2021

Hematological Characteristics of β-Globin Gene Mutation -50 (G>A) (HBB: c.-100G>A) Carriers in Mainland China.

Zhao Y et al.

Hemoglobin, 2020

Coinheritance of α- and β-Thalassemia with a Novel Mutation (HBB: c.268_281delAGTGAGCTGCACTG) in a Chinese Family.

Cheng C et al.

Hemoglobin, 0

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."