Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.K121_E122insFs
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HBB

NM_000518.5:p.K121_E122insFs

Associated Papers

Hb Ryazan: An Elongated C-Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25.

Demidova E et al.

Hemoglobin, 2023

37194736 (PubMed )
Supplement: supplement_1.zip › Supplementary_table_2.xlsx › ____3

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

A Novel β0-Thalassemia Mutation, HBB: c.356_357delTT [Codon 118 (-TT)] in an Iraqi Kurd.

Atroshi SD et al.

Hemoglobin, 2021

Identification of a Novel β-Thalassemia Mutation at Codon 130 (+T) (HBB: c.391insT) in Han Chinese.

Wang WJ et al.

Hemoglobin, 2021

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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."