Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.H64R
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HBB

NM_000518.5:p.H64R

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 Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype.

Martin G et al.

Hemoglobin, 2021

Hematological and Molecular Characterization of a Novel Hb A2 Variant with Homozygous α-Thalassemia-2 in a Southern Thai Individual.

Nuinoon M et al.

Hemoglobin, 2017

Prevalence and genetic analysis of α-thalassemia and β-thalassemia in Chongqing area of China.

Yao XY et al.

Gene, 2013

[Prevalence and molecular analysis of β-thalassemia in children of Han ethnicity in Chongqing city].

Yao XY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013

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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."