Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.F43L
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HBB

NM_000518.5:p.F43L

Associated Papers

High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China.

Zhang J et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026

Epidemiological study of thalassemia in the Buyi population of Qiannan Prefecture, Guizhou Province, China based on third-generation sequencing.

Wu J et al.

Annals of Hematology, 2025

Effective screening of hemoglobin Constant Spring and hemoglobin Paksé with several forms of α- and β-thalassemia in an area with a high prevalence and heterogeneity of thalassemia using capillary electrophoresis.

Panyasai S et al.

Heliyon, 2023

Fist Detection of Hb Suqian[β42(CD1) Phe→Leu, HBB:c.129T > A] in Han Chinese.

Wang W et al.

Hemoglobin, 2023

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

Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam.

Xinh PT et al.

Molecular Biology Reports, 2022

Molecular epidemiological and hematological profile of thalassemia in the Dongguan Region of Guangdong Province, Southern China.

Peng Q et al.

Journal of Clinical Laboratory Analysis, 2021

Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China.

Zhao J et al.

Journal of Clinical Pathology, 2020

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
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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."