Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.P125L
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HBB

NM_000518.5:p.P125L

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-Full_dataset

First report of a Chinese patient carrying Hb Ty Gard: A case report.

Pei Y et al.

Medicine, 2022

Five novel globin gene mutations identified in five Chinese families by next-generation sequencing.

Zhang J et al.

Molecular Genetics & Genomic Medicine, 2021

Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening.

Wolf A et al.

Hemoglobin, 2019

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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."