Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.A130P
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HBB

NM_000518.5:p.A130P

Associated Papers

High-Oxygen-Affinity Hemoglobins-Case Series and Review of the Literature.

Komninaka V et al.

Journal of Clinical Medicine, 2024

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

Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.

Scheps KG et al.

Human Mutation, 2020

Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.

Canatan D et al.

Hemoglobin, 2016

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
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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."