Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.F123L
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HBB

NM_000518.5:p.F123L

Associated Papers

A Novel Frameshift Mutation of HBB Causing Dominant β-Thalassemia in a Chinese Individual.

Yao C et al.

Hemoglobin, 2024

39103314 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

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

Detection of the HBB: c.393T>G Mutation in Two Patients with Hypochromic Microcytic Anemia.

Zhao Q et al.

Hemoglobin, 2021

The relationship between the variations in Gγ and Aγ promotors and the Hereditary Persistence of Fetal Hemoglobin (HPFH).

Aydin M et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2018

A novel compound heterozygosity in Southern China: IVS-II-5 (G > C) and IVS-II-672 (A > C).

Zhao L et al.

Hemoglobin, 2016

Mutation screening for thalassaemia in the Jino ethnic minority population of Yunnan Province, Southwest China.

Wang S et al.

Bmj Open, 2015

A novel promoter mutation (HBB: c.-75G>T) was identified as a cause of β(+)-thalassemia.

Li Z et al.

Hemoglobin, 2015

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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."