Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.V12D
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HBB

NM_000518.5:p.V12D

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

Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain.

Scheps KG et al.

European Journal of Haematology, 2018

First report of Hb A2-NYU (HBD:c.39T>A) in the Hellenic population.

Georgitsi M et al.

Hemoglobin, 2011

[Single nucleotide polymorphisms of β-globin gene in β-thalassaemia patients].

Sun SC et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2010

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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."