Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.E23D
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HBB

NM_000518.5:p.E23D

Associated Papers

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

Cellular function reinstitution of offspring red blood cells cloned from the sickle cell disease patient blood post CRISPR genome editing.

Wen J et al.

Journal of Hematology & Oncology, 2017

One-Step Biallelic and Scarless Correction of a β-Thalassemia Mutation in Patient-Specific iPSCs without Drug Selection.

Liu Y et al.

Molecular Therapy. Nucleic Acids, 2017

28325300 (PubMed )
Supplement: mmc1.pdf

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

Henderson SJ et al.

Hemoglobin, 2016

Production of Gene-Corrected Adult Beta Globin Protein in Human Erythrocytes Differentiated from Patient iPSCs After Genome Editing of the Sickle Point Mutation.

Huang X et al.

Stem Cells (dayton, Ohio), 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."