Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.S73R
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HBB

NM_000518.5:p.S73R

Associated Papers

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

Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene.

Hamid M et al.

Archives of Iranian Medicine, 2022

A New Case of Hb Headington (HBB: c.217A>C) Due to a New DNA Transversion, Found in a Patient with Type 2 Diabetes Mellitus.

Liu Y et al.

Hemoglobin, 2022

[A novel double heterozygote of HBB c.[219T>A;220G>T]: gene diagnosis and pedigree analysis].

Lv J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017

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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."