Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.H78D
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HBB

NM_000518.5:p.H78D

Associated Papers

Can Hb A1c Be Greater Than 100%? A Case of Homozygous Hemoglobin J-Iran.

Marin MJ et al.

The Journal of Applied Laboratory Medicine, 2025

Commentary on Can Hemoglobin A1c Be Greater Than 100%? A Case of Homozygous Hemoglobin J-Iran.

Geaghan SM

The Journal of Applied Laboratory Medicine, 2025

Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.

Mousavi SS et al.

Biomed Research International, 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

Hematological and Molecular Characterization of a Novel Hb A2 Variant with Homozygous α-Thalassemia-2 in a Southern Thai Individual.

Nuinoon M et al.

Hemoglobin, 2017

Hemoglobin J-Iran (HBB c.232C>G): Interference with the assay of HbA1c.

Kurtoğlu AU et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.

Canatan D et al.

Hemoglobin, 2016

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

Henderson SJ et al.

Hemoglobin, 2016

The Prevalence of Hemoglobinopathies in Young Adolescents in the Province of Muğla in Turkey: Results of a Screening Program.

Topal Y 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."