Varaico: Literature-Extracted Genetic Variants

Gene:BCL11A
Variant:p.H66Y
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BCL11A

NM_022893.4:p.H66Y

Associated Papers

Precision Editing as a Therapeutic Approach for β-Hemoglobinopathies.

Paschoudi K et al.

International Journal of Molecular Sciences, 2023

In vivo HSPC gene therapy with base editors allows for efficient reactivation of fetal γ-globin in β-YAC mice.

Li C et al.

Blood Advances, 2021

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

Venkatesan V et al.

Molecular and Cellular Biology, 2020

The Effect of Five Single Nucleotide Polymorphisms on Hb F Variation of β-Thalassemia Traits and Hematologically Normal Individuals in Southeast Turkey.

Genc A et al.

Hemoglobin, 2020

Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding.

Martyn GE et al.

Nature Genetics, 2018

The relevance of hemoglobin F measurement in the diagnosis of thalassemias and related hemoglobinopathies.

Mosca A et al.

Clinical Biochemistry, 2009

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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."