Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.F42L
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HBB

NM_000518.5:p.F42L

Associated Papers

Difficult Cases in the Diagnosis of Thalassemia Syndromes.

Canatan D et al.

Hemoglobin, 2026

Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.

Iengar P et al.

Computational Biology and Chemistry, 2026

Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.

Wan Y et al.

Journal of Clinical Laboratory Analysis, 2024

Mutation Spectrum of β-Thalassemia in Some Ethnic Groups of North Maharashtra, India.

Kumar R 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-HBB

The Effect of HBB: c.-121C>T Variant [-71 (C>T)] on the β-Globin Promoter: Case Series Study.

Rafat M et al.

Hemoglobin, 2021

The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.

Patsali P et al.

Journal of Clinical Medicine, 2019

31766235 (PubMed )
Supplement: jcm-08-01959-s001.pdf

The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population.

Yasmeen H et al.

European Journal of Medical Genetics, 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

Automated analysis of hemoglobin variants using nanoLC-MS and customized databases.

Das R et al.

Journal of Proteome Research, 2013

23692286 (PubMed )
Supplement: pr4000625_si_001.pdf

Towards a prevention program for β-thalassemia. The molecular spectrum in East Java, Indonesia.

Hernanda PY et al.

Hemoglobin, 2012

Gene algebra from a genetic code algebraic structure.

Sanchez R et al.

Journal of Mathematical Biology, 2005

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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."