Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.M33T
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HBA1

NM_000558.5:p.M33T

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-HBA1

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ et al.

Hemoglobin, 2016

A combination of two novel alpha globin variants Hb Bridlington (HBA1) and Hb Taybe (HBA2) resulting in severe hemolysis, pulmonary hypertension, and death.

Hill QA et al.

Hematology (amsterdam, Netherlands), 2015

Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies.

Patrinos GP et al.

Nucleic Acids Research, 2004

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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."