Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.G84D
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HBB

NM_000518.5:p.G84D

Associated Papers

Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.

Thaker P et al.

International Journal of Laboratory Hematology, 2024

Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand.

Tepakhan W et al.

Scientific Reports, 2024

Evaluation of interference from 16 hemoglobin variants on hemoglobin A1c measurement by five methods.

Yang X et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2023

Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program.

Singha K et al.

Plos One, 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

Unexpected HbA1c results in the presence of three rare hemoglobin variants.

Xu J et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2021

α-Thalassemia Intermedia Results from Interactions of Unstable Hb Prato [α31(B12)Arg→Ser (HBA1 or HBA2 c.96G>T or C)] with the α-Thalassemia-1 [- -SEA (Southeast Asian)] Deletion in Thailand.

Panyasai S et al.

Hemoglobin, 2020

Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.

Scheps KG et al.

Human Mutation, 2020

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.

Nadkarni AH et al.

International Journal of Laboratory Hematology, 2019

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ et al.

Hemoglobin, 2016

Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.

Alvarez-Dominguez JR et al.

The Journal of Biological Chemistry, 2013

Hb H disease with various β hemoglobinopathies: molecular, hematological and diagnostic aspects.

Fucharoen S et al.

Hemoglobin, 2012

Prevalence of hemoglobin variants and hemoglobinopathies using cation-exchange high-performance liquid chromatography in central reference laboratory of India: A report of 65779 cases.

Warghade S et al.

Journal of Laboratory Physicians, 0

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