Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L15P
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HBB

NM_000518.5:p.L15P

Associated Papers

Mild Thalassemic Effect of Heterozygous Hb Sogn in a Large Cohort from Routine Hemoglobinopathy Investigation.

Fjeld B et al.

Hemoglobin, 2026

Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients.

Ejaz S et al.

Scientific Reports, 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-Full_dataset

Codon 14 (+T) (HBB: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan.

Aliyeva G et al.

Hemoglobin, 2018

A new hemoglobin variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T] with a double base mutation at the same codon.

Renoux C et al.

Hemoglobin, 2015

Hb Feilding [β12(A9)Thr → Pro; HBB: c.37A>C]: a novel unstable β-globin chain variant.

Ghallyan N et al.

Hemoglobin, 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."