Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.G120D
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HBB

NM_000518.5:p.G120D

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

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

Analysis of a Novel Mexican Variant of the HBB Gene Associated with β-Thalassemia Using Bioinformatic Tools.

Martínez Villegas O et al.

Hemoglobin, 2021

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

Scheps KG et al.

Human Mutation, 2020

Hb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)]: Incidental Detection of a New Clinically Silent β Chain Variant During Hb A1c Determination by High Performance Liquid Chromatography.

Pianezze G et al.

Hemoglobin, 2016

Characterization of the HBB: c.*233G > C Variant: No Evidence of a β-Thalassemic Phenotype.

Smith DL et al.

Hemoglobin, 2016

Two new hemoglobin variants: Hb Tallahassee [α3(A1)Ser→Tyr; HBA2: c.11C>A] and Hb madison-NC [β119(GH2)Gly→Ser; HBB: c.358G>A].

Kutlar F et al.

Hemoglobin, 2014

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