Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.V112G
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HBB

NM_000518.5:p.V112G

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-HBB

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

Carlice-Dos-Reis T et al.

Plos One, 2017

Hb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)]: Incidental Detection of a New Clinically Silent β Chain Variant During Hb A1c Determination by High Performance Liquid Chromatography.

Pianezze G et al.

Hemoglobin, 2016

Two novel haemoglobin variants that affect haemoglobin A1c measurement by ion-exchange chromatography.

Bots M et al.

Clinical Chemistry and Laboratory Medicine, 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."