Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.F43L
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HBD

NM_000519.4:p.F43L

Associated Papers

Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read Sequencing.

Zhou X et al.

Human Mutation, 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

Molecular Characterization of Complex Thalassemia with Multiple Variants in β-Globin Gene Cluster and the Identification of a Novel Structural Rearrangement in γ-Globin Gene.

Xu Y et al.

Hemoglobin, 2025

Prevalence and Molecular Characteristics of Hemoglobin Variants in Laibin City, Central Guangxi of Southern China.

Huang YY et al.

Hemoglobin, 2025

Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis.

Li Y et al.

Frontiers in Genetics, 2025

Molecular and hematological characteristics of two different δ-globin promoter variants, δ-276(A>G) and δ-77(T >C) among Thai, Burmese, and Laotian subjects.

Panyasai S et al.

Peerj, 2025

Functional categorization of gene regulatory variants that cause Mendelian conditions.

Cheng YHH et al.

Human Genetics, 2024

Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project.

Zheng X et al.

Molecular Biology Reports, 2024

Detecting rare thalassemia in children with anemia using third-generation sequencing.

Ren ZM et al.

Hematology (amsterdam, Netherlands), 2023

Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants.

Xu A et al.

International Journal of Laboratory Hematology, 2023

Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China.

Lou J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

Prospective screening for δ-hemoglobinopathies associated with decreased hemoglobin A2 levels or hemoglobin A2 variants: A single center experience.

Hanart C et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

A New Mutation, Hb A2-Canakkale [δ10(A7)Ala→Val; HBD: c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A2 Levels.

Karakaya T et al.

Hemoglobin, 2022

Identification of rare thalassemia variants using third-generation sequencing.

Liu Q et al.

Frontiers in Genetics, 2022

An Evaluation for the Causes of Reduced Hb A2 and the Molecular Characterization of HBD Variants in Hong Kong.

Chan NCN et al.

Hemoglobin, 2021

Evaluation of intervention strategy of thalassemia for couples of childbearing ages in Centre of Southern China.

Jiang F et al.

Journal of Clinical Laboratory Analysis, 2021

δ-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia.

Singha K et al.

Annals of Hematology, 2021

Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study.

Zhuang J et al.

Frontiers in Genetics, 2021

First report of the spectrum of δ-globin gene mutations among women of reproductive age in Fujian area-Discrimination of δ-thalassemia, α-thalassemia, and Iron Deficiency Anemia.

Chen M et al.

Journal of Clinical Laboratory Analysis, 2020

δ-Globin Chain Variants Associated with Decreased Hb A2 Levels: A National Reference Laboratory Experience.

Rets AV et al.

Hemoglobin, 2020

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.

Zhang J et al.

Molecular Genetics & Genomic Medicine, 2019

δ-Thalassemia with Complete Absence of Hb A2 in a Chinese Family.

Tang HS et al.

Hemoglobin, 2018

Analysis of δ-globin gene mutations in the Chinese population.

Liu N et al.

Hemoglobin, 2013

Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.

Phylipsen M et al.

International Journal of Laboratory Hematology, 2011

Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China.

Xiong F et al.

Clinical Genetics, 2010

Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.

De Angioletti M et al.

Human Mutation, 2002

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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."