Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.H98Q
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HBB

NM_000518.5:p.H98Q

Associated Papers

Global distribution of β-thalassemia mutations: An update.

Rao E et al.

Gene, 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

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

A New High Affinity Hemoglobin Variant: Hb San Francisco-KP (HBB: c.104T>C).

Tavakoli J et al.

Hemoglobin, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype

Influence of high affinity haemoglobin on the response to normoxic and hypoxic exercise.

Dominelli PB et al.

The Journal of Physiology, 2020

Hereditary gene mutations in Korean patients with isolated erythrocytosis.

Jang JH et al.

Annals of Hematology, 2014

At high altitude in the Netherlands: secondary erythrocytosis due to HB-Malmö.

Santbergen B et al.

Bmj Case Reports, 2014

Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

Bento C et al.

European Journal of Haematology, 2013

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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."