Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.S10Y
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HBB

NM_000518.5:p.S10Y

Associated Papers

Clinicohematological and molecular analysis of hemoglobin D syndrome and unknown variants in the hemoglobinopathy spectrum of Sindh, Pakistan.

Tashfeen S et al.

Plos One, 2025

Molecular Identification and the Hematological Findings of Four Novel Variants in Globin Genes in Jiangxi Province of Southern China.

Tan L et al.

Hemoglobin, 2024

Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.

Thaker P et al.

International Journal of Laboratory Hematology, 2024

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

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

An Unusual Compound Heterozygosity for Hb O-Arab (HBB: c.364G>A) and Hb D-Los Angeles (HBB: c.364G>C).

van Gammeren AJ et al.

Hemoglobin, 2020

Hb Hunan and Hb Hengyang: Two unexpected discoveries during HbA1c measurements.

Xu A et al.

Clinical Chemistry and Laboratory Medicine, 2019

Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis.

Torres Lde S et al.

Revista Brasileira De Hematologia E Hemoterapia, 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."