Varaico: Literature-Extracted Genetic Variants

Gene:HBG1
Variant:p.S53F
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HBG1

NM_000559.3:p.S53F

Associated Papers

Enhanced fetal hemoglobin production via dual-beneficial mutation editing of the HBG promoter in hematopoietic stem and progenitor cells for β-hemoglobinopathies.

Chandraprabha PB et al.

Stem Cell Research & Therapy, 2024

Manipulation of Developmental Gamma-Globin Gene Expression: an Approach for Healing Hemoglobinopathies.

Venkatesan V et al.

Molecular and Cellular Biology, 2020

Fetal Hemoglobin in Sickle Hemoglobinopathies: High HbF Genotypes and Phenotypes.

Steinberg MH

Journal of Clinical Medicine, 2020

The relationship between the variations in Gγ and Aγ promotors and the Hereditary Persistence of Fetal Hemoglobin (HPFH).

Aydin M et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2018

The Cretan type of nondeletional hereditary persistence of fetal hemoglobin in an Iranian family.

Hamid M et al.

Annals of Hematology, 2009

The 5' regulatory region of the human fetal globin genes is a gene conversion hotspot.

Kalamaras A et al.

Hemoglobin, 2008

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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."