Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R31S
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HBB

NM_000518.5:p.R31S

Associated Papers

Hb Tacoma is difficult to detect and may cause false results with different HbA1c methods.

Landin B et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2025

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

The prevalence of hemoglobin Tacoma in Finland detected by HbA1c capillary electrophoresis.

Kangastupa P et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 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

Hb Tacoma: G>T or G>C, and Does It Matter?

Moore JA et al.

Hemoglobin, 2021

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

Scheps KG et al.

Human Mutation, 2020

A Novel Mutation at HBB: c.91delA (Codon 30, -A) Causing β-Thalassemia in a Chinese Family.

Jia W et al.

Acta Haematologica, 2019

Investigation of mutations in the HBB gene using the 1,000 genomes database.

Carlice-Dos-Reis T et al.

Plos One, 2017

The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population.

Yasmeen H et al.

European Journal of Medical Genetics, 2016

Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.

Riou J et al.

International Journal of Laboratory Hematology, 2015

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Analysis of human alpha globin gene mutations that impair binding to the alpha hemoglobin stabilizing protein.

Yu X et al.

Blood, 2009

Hb Tacoma by seven HbA1c methods - one with significant interference.

Mäenpää A et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 0

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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."